Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7439
Gene name	Bestrophin 1
Gene symbol	BEST1
Synonyms (NCBI Gene)	ARBBESTBMDBest1V1Delta2RP50TU15BVMD2
Chromosome	11
Chromosome location	11q12.3
Summary	This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gat

Show/Hide all (22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940275	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs28940276	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs28940278	G>A	Not-provided, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs121918285	C>G,T	Not-provided, pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, intron variant, stop gained, non coding transcript variant
rs121918288	T>C	Not-provided, pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, non coding transcript variant
rs281865205	T>C,G	Likely-pathogenic, not-provided	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs281865207	C>T	Pathogenic, not-provided	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs281865209	G>A,C	Likely-pathogenic, not-provided	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs281865215	G>A	Pathogenic, not-provided	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs281865218	A>G	Uncertain-significance, likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs281865528	CA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs752125512	T>-	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs752521456	TG>-	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs766357080	->G	Pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs766379510	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs771898125	C>T	Likely-pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs886041141	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs886041142	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1554964287	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs1555096248	G>T	Pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1565382549	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1591266379	C>G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, intron variant

Show/Hide all (35)

miRTarBase ID	miRNA	Experiments
MIRT1942624	hsa-miR-4277	CLIP-seq
MIRT1942625	hsa-miR-4292	CLIP-seq
MIRT1942626	hsa-miR-4690-3p	CLIP-seq
MIRT1942627	hsa-miR-486-3p	CLIP-seq
MIRT1942628	hsa-miR-515-5p	CLIP-seq
MIRT2181412	hsa-miR-4302	CLIP-seq
MIRT1942624	hsa-miR-4277	CLIP-seq
MIRT1942625	hsa-miR-4292	CLIP-seq
MIRT1942626	hsa-miR-4690-3p	CLIP-seq
MIRT1942627	hsa-miR-486-3p	CLIP-seq
MIRT1942628	hsa-miR-515-5p	CLIP-seq
MIRT2484663	hsa-miR-1178	CLIP-seq
MIRT2484664	hsa-miR-3157-5p	CLIP-seq
MIRT2484665	hsa-miR-382	CLIP-seq
MIRT2484666	hsa-miR-3973	CLIP-seq
MIRT2484667	hsa-miR-4259	CLIP-seq
MIRT2484668	hsa-miR-4260	CLIP-seq
MIRT2484669	hsa-miR-4640-5p	CLIP-seq
MIRT2484670	hsa-miR-4691-3p	CLIP-seq
MIRT2484671	hsa-miR-4715-3p	CLIP-seq
MIRT2484672	hsa-miR-4726-5p	CLIP-seq
MIRT2484673	hsa-miR-520g	CLIP-seq
MIRT2484674	hsa-miR-520h	CLIP-seq
MIRT2484675	hsa-miR-548a-5p	CLIP-seq
MIRT2484676	hsa-miR-548ab	CLIP-seq
MIRT2484677	hsa-miR-548ak	CLIP-seq
MIRT2484678	hsa-miR-548b-5p	CLIP-seq
MIRT2484679	hsa-miR-548c-5p	CLIP-seq
MIRT2484680	hsa-miR-548d-5p	CLIP-seq
MIRT2484681	hsa-miR-548h	CLIP-seq
MIRT2484682	hsa-miR-548i	CLIP-seq
MIRT2484683	hsa-miR-548j	CLIP-seq
MIRT2484684	hsa-miR-548w	CLIP-seq
MIRT2484685	hsa-miR-548y	CLIP-seq
MIRT2484686	hsa-miR-559	CLIP-seq

Show/Hide all (7)

Transcription factor	Regulation	Reference
CRX	Activation	18849347
MITF	Activation	14982938
MITF	Unknown	20530484
OTX1	Activation	18849347
OTX2	Activation	18849347
OTX2	Unknown	20530484
SOX9	Activation	20530484

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	11904445, 12907679, 18400985, 26720466, 35789156
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IMP	18179881, 19853238, 21330666, 26200502
GO:0005254	Function	Chloride channel activity	IDA	17003041
GO:0005254	Function	Chloride channel activity	IDA	17003041
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	TAS	17003041
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26200502
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IDA	17003041
GO:0006821	Process	Chloride transport	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9662395
GO:0009925	Component	Basal plasma membrane	IDA	31791063
GO:0014047	Process	Glutamate secretion	IEA
GO:0014047	Process	Glutamate secretion	ISS
GO:0015106	Function	Bicarbonate transmembrane transporter activity	TAS
GO:0015267	Function	Channel activity	IEA
GO:0015701	Process	Bicarbonate transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10737974
GO:0016323	Component	Basolateral plasma membrane	IDA	11050159, 19853238, 21330666, 26200502
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0022834	Function	Ligand-gated channel activity	IEA
GO:0022834	Function	Ligand-gated channel activity	ISS
GO:0030321	Process	Transepithelial chloride transport	IDA	17003041
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034707	Component	Chloride channel complex	IDA	17003041
GO:0034707	Component	Chloride channel complex	IEA
GO:0042802	Function	Identical protein binding	IPI	19372599
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0051259	Process	Protein complex oligomerization	IDA	26200502
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0061534	Process	Gamma-aminobutyric acid secretion, neurotransmission	IEA
GO:0061534	Process	Gamma-aminobutyric acid secretion, neurotransmission	ISS
GO:0098793	Component	Presynapse	IEA
GO:0098857	Component	Membrane microdomain	IEA
GO:0098857	Component	Membrane microdomain	ISS
GO:0160133	Function	Bicarbonate channel activity	IDA	18400985
GO:1902476	Process	Chloride transmembrane transport	IBA

MIM	HGNC	e!Ensembl
607854	12703	ENSG00000167995

O76090

Protein name

Bestrophin-1 (TU15B) (Vitelliform macular dystrophy protein 2)

Protein function

Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+) (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:2

PDB

8D1I , 8D1J , 8D1K , 8D1L , 8D1M , 8D1O , 9CTQ , 9CTR , 9CTS , 9CTT , 9DYL , 9DYM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01062	Bestrophin	8 → 316	Bestrophin, RFP-TM, chloride channel	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.

Sequence

MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYYIIRFIYRLALTEEQQL
MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQ
GRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNM
FWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLRTQCGHLYAYDWISIPLVYTQVV
TVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGE
DDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRASFM
GSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESL
LHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFP
LEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFN
LTDMPEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRDEAHS

Sequence length

585

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

663

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant vitreoretinochoroidopathy	Likely pathogenic; Pathogenic	rs281865221, rs199529046, rs281865238, rs372989281, rs1431752515, rs28940570, rs28940278, rs121918286, rs121918289, rs267606679, rs186544610, rs752125512, rs1591301548, rs267606676, rs759410076	RCV005049420 RCV005359025 RCV000763263 RCV002478405 RCV002283941 RCV003326112 RCV004795367 RCV002490299 RCV000002867 RCV000002876 RCV005356210 RCV005358033 RCV005414546 RCV002250720 RCV002290633
Autosomal recessive bestrophinopathy	Likely pathogenic; Pathogenic	rs1334381137, rs281865221, rs281865209, rs199529046, rs281865238, rs281865215, rs747043918, rs281865273, rs372989281, rs767103810, rs2541400072, rs28940278, rs281865528, rs121918284, rs121918286 View all (19 more)	RCV002223306 RCV005049420 RCV005867899 RCV000169651 RCV000763263 RCV003152682 RCV005868327 RCV004699612 RCV005252765 RCV002222859 RCV002288308 RCV004795367 RCV003152665 RCV000002863 RCV000002864 RCV000002865 RCV000002866 RCV005356210 RCV004796142 RCV004796143 RCV003152701 RCV004787070 RCV000625550 RCV001353022 RCV000606825 RCV000625593 RCV000625591 RCV000625654 RCV000735775 RCV005358033 RCV001029842 RCV004819238 RCV001352945 RCV001352993
BEST1-related disorder	Likely pathogenic; Pathogenic	rs281865221, rs199529046, rs281865263, rs2134453127, rs753334817, rs281865528, rs121918284, rs2541354342, rs886041142, rs2541399701, rs1591284563, rs62639270, rs750102662	RCV004529902 RCV000312619 RCV004724805 RCV005868490 RCV004538687 RCV004732527 RCV004532276 RCV004733558 RCV004529457 RCV004539359 RCV005866745 RCV004536108 RCV004538493
BEST1-related dominant retinopathy	Likely pathogenic; Pathogenic	rs121918284	RCV005364864
Isolated macular dystrophy	Likely pathogenic; Pathogenic	rs886041141, rs1565387045	RCV001199441 RCV001199445
Macular dystrophy	Likely pathogenic; Pathogenic	rs281865239, rs281865255, rs886041141, rs1225032182, rs368383940	RCV000787544 RCV000787546 RCV004798822 RCV000787538 RCV004798885
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2	Likely pathogenic	rs121918290	RCV000002868
Retinal disorder	Likely pathogenic; Pathogenic	rs281865251, rs281865265, rs28940570	RCV006270221 RCV006276069 RCV006270213
Retinal dystrophy	Likely pathogenic; Pathogenic	rs281865529, rs281865204, rs281865221, rs281865224, rs281865206, rs281865227, rs281865228, rs281865230, rs281865209, rs281865236, rs281865238, rs281865239, rs281865244, rs281865246, rs281865247 View all (74 more)	RCV004815142 RCV004815143 RCV001073510 RCV004815145 RCV001073998 RCV004815146 RCV004815147 RCV004815148 RCV001075157 RCV001075881 RCV001073491 RCV004815152 RCV001073253 RCV004815153 RCV004815154 RCV001074234 RCV004815155 RCV004815156 RCV004815157 RCV004815158 RCV004815160 RCV004815161 RCV004815162 RCV004815164 RCV001073527 RCV001073273 RCV001074846 RCV004815165 RCV001075792 RCV004815166 RCV004815167 RCV001073777 RCV004815168 RCV004815169 RCV004815514 RCV004815603 RCV004816910 RCV004815745 RCV004816830 RCV003888561 RCV004817005 RCV001073456 RCV004814806 RCV001073354 RCV004814807 RCV004814808 RCV001075633 RCV004814810 RCV001074224 RCV001075875 RCV004814811 RCV004814812 RCV001074078 RCV004817189 RCV004817190 RCV004817222 RCV004817223 RCV004817148 RCV004816467 RCV001075688 RCV001075804 RCV004816470 RCV004818377 RCV004818421 RCV004818432 RCV003889584 RCV004816683 RCV004816696 RCV004816728 RCV004816733 RCV000505001 RCV004817734 RCV004817816 RCV004817824 RCV004817856 RCV001075495 RCV004818000 RCV004818001 RCV004818145 RCV004818180 RCV004818181 RCV001074422 RCV004813694 RCV001074250 RCV001073429 RCV001073993 RCV001074522 RCV001075759 RCV001074880 RCV001075291 RCV004813726 RCV004814059 RCV004814054
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs372989281, rs1555099048	RCV000132651 RCV000505128
Retinitis pigmentosa 50	Likely pathogenic; Pathogenic	rs281865221, rs199529046, rs281865238, rs372989281, rs28940278, rs121918286, rs267606680, rs267606677, rs186544610, rs752125512	RCV005049420 RCV005359025 RCV000763263 RCV002478405 RCV004795367 RCV002490299 RCV000002870 RCV000002874 RCV005356210 RCV005358033
See cases	Likely pathogenic; Pathogenic	rs1434513582	RCV002252556
Severe early-childhood-onset retinal dystrophy	Likely pathogenic; Pathogenic	rs759410076	RCV005626347
Stargardt disease	Likely pathogenic; Pathogenic	rs1389863115, rs121918284, rs1591303900, rs1591266591	RCV003389499 RCV000787541 RCV000787536 RCV000787797
Vitelliform macular dystrophy 1	Likely pathogenic; Pathogenic	rs28940570	RCV003448243
Vitelliform macular dystrophy 2	Likely pathogenic; Pathogenic	rs1941816094, rs281865221, rs281865207, rs199529046, rs281865212, rs281865238, rs281865239, rs281865241, rs281865213, rs281865214, rs281865215, rs281865253, rs281865255, rs281865218, rs1295669283 View all (54 more)	RCV001352947 RCV005049420 RCV001002886 RCV001376213 RCV005252757 RCV000763263 RCV001002892 RCV001002893 RCV006252438 RCV001352979 RCV001002887 RCV005417960 RCV001002895 RCV000761260 RCV001542477 RCV002272465 RCV001591903 RCV005623103 RCV002478405 RCV002249296 RCV002287762 RCV002287779 RCV002289134 RCV000149459 RCV000002846 RCV000002847 RCV000002848 RCV000002849 RCV000002850 RCV000002851 RCV000002854 RCV000002855 RCV000002857 RCV000002858 RCV000002860 RCV000002861 RCV000002862 RCV002490299 RCV000002873 RCV005235669 RCV005356210 RCV001002894 RCV001376382 RCV005418177 RCV000664327 RCV001199444 RCV000590969 RCV000655874 RCV000661905 RCV000754762 RCV000761261 RCV000761419 RCV000779068 RCV000787542 RCV000787537 RCV000787539 RCV000787547 RCV000787548 RCV000787549 RCV000988567 RCV001002888 RCV001002889 RCV001002890 RCV001002896 RCV001199442 RCV001199443 RCV003989627 RCV005235515 RCV001103323 RCV001198877 RCV001376459

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs195164	RCV005918005
Cone-rod dystrophy 6	Uncertain significance	rs751707411	RCV000850038
Familial cancer of breast	Conflicting classifications of pathogenicity	rs182941675	RCV005895867
Gastric cancer	Uncertain significance	rs565942468	RCV005934723
Lung cancer	Benign; Conflicting classifications of pathogenicity	rs195164, rs182941675	RCV005918006 RCV005895871
maculopathy	Uncertain significance	rs1591289408	RCV001002891
Malignant lymphoma, large B-cell, diffuse	Benign	rs195164	RCV005918003
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs182941675	RCV005895868
Retinitis Pigmentosa, Recessive	Benign; Uncertain significance; Likely benign	rs972354, rs972353, rs562849665, rs137965157, rs77151527, rs117165769, rs886048424	RCV000392337 RCV000355356 RCV000380849 RCV000292643 RCV000388175 RCV000339384 RCV000367924
Rod-cone dystrophy	Uncertain significance	rs376577490	RCV001090041
Thymoma	Benign	rs195164	RCV005918004
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs182941675	RCV005895870
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs182941675	RCV005895869

Show/Hide Text Mining Associations (55)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atherosclerosis	Associate	31875420
Axenfeld Rieger syndrome	Associate	28056057, 32646389
Behcet Syndrome	Associate	32111077
Best Vitelliform Macular Dystrophy Multifocal	Associate	21293734
Bestrophinopathy	Associate	21738390, 25489231, 27163236, 28831140, 29976937, 30781664, 31766397, 31836750, 32111077, 32421148, 34061021, 34327816, 36378562, 37747403
Blindness	Associate	29063836
Cataract	Associate	37076855
Cataract microcornea syndrome	Associate	37076855
Choroidal Neovascularization	Associate	30498755
Choroiditis	Associate	33302512
Cone Rod Dystrophies	Associate	29555955, 35656873
Crohn Disease	Associate	35260635
Cysts	Associate	30781664
Epilepsy	Associate	39674551
Eye Abnormalities	Associate	21072067
Genetic Diseases Inborn	Associate	32421148
Glaucoma	Associate	28056057
Glaucoma Angle Closure	Associate	21921978, 24859690, 28056057, 30593719, 32646389, 35768830, 40414863
Heredodegenerative Disorders Nervous System	Associate	25878489
Hyperlipidemias	Associate	30781664, 37041514
Hypertensive Retinopathy	Associate	18179881, 18985398, 19029375, 19635817, 27287821, 36264634
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	28677725
Macular Degeneration	Associate	16885924, 20057903, 32707085, 37041716, 39596324
Macular Dystrophy Retinal 2	Associate	33988224
Macular Edema	Associate	37246744
Microphthalmos	Associate	37076855
Multiple Pterygium Syndrome Autosomal Dominant	Associate	19853238, 31766397
Neoplasms	Associate	31455904, 37088729
Neoplasms Cystic Mucinous and Serous	Associate	40724865
Nerve Degeneration	Associate	39674551
Neurodegenerative Diseases	Associate	21072067, 31263784
Paralysis Hyperkalemic Periodic	Associate	19372599
Patterned dystrophy of retinal pigment epithelium	Associate	32882766
Plaque Atherosclerotic	Associate	31875420
Refsum Disease Infantile	Associate	27391102
Retinal Degeneration	Associate	27193166
Retinal Detachment	Associate	37761846
Retinal Diseases	Associate	29063836, 30199040, 30628889, 31836750, 32423767, 34061021, 38160664, 40724865
Retinal Dystrophies	Associate	18985398, 19853238, 22162627, 27391102, 32646389, 34996991, 39596324
Retinal Vein Occlusion	Associate	35768830
Retinitis	Associate	28056057, 40724865
Retinitis Pigmentosa	Associate	19853238, 35656873
Retinitis Pigmentosa Concentric	Associate	31766397
Retinoschisis	Associate	32646389
Squamous Cell Carcinoma of Head and Neck	Associate	37088729
Stargardt Disease	Associate	28050124, 33988224, 36264634
Sveinsson Chorioretinal Atrophy	Associate	23617333
Usher Syndromes	Associate	35656873
Uveitis	Associate	40414863
Vision Disorders	Associate	21293734, 29063836
Vitamin D Deficiency	Associate	29976937
Vitelliform Macular Dystrophy	Associate	16865191, 16885924, 17287362, 18179881, 19372599, 19597114, 19635817, 19853238, 20057903, 21109774, 21293734, 21738390, 21921978, 22084158, 22162627 View all (40 more)
Vitreoretinochoroidopathy	Associate	16707793, 18179881, 21072067, 32111077
Vitreoretinopathy Proliferative	Associate	28777835
White Dot Syndromes	Associate	31766397

BEST1 (bestrophin 1)