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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25981
Gene name	Dynein axonemal heavy chain 1
Gene symbol	DNAH1
Synonyms (NCBI Gene)	CILD37DNAHC1HDHC7HL-11HL11HSRF-1SPGF18XLHSRF-1
Chromosome	3
Chromosome location	3p21.1
Summary	This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple mo

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs76591348	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs140883175	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs200416242	C>A,T	Pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs544674332	A>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs557979163	->GG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs746049858	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs753307279	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs759646845	AGAG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs759727960	C>T	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs762545991	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs765417610	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs766323732	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs767196276	G>A,C	Pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs779490893	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1131692234	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1131692250	G>A,C	Pathogenic	Splice acceptor variant
rs1131692251	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1297408310	TAAC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003777	Function	Microtubule motor activity	NAS	9373155
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005858	Component	Axonemal dynein complex	NAS	9373155
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IMP	24360805
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007288	Process	Sperm axoneme assembly	IMP	24360805
GO:0008569	Function	Minus-end-directed microtubule motor activity	IBA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0030286	Component	Dynein complex	IBA
GO:0030286	Component	Dynein complex	IEA
GO:0030317	Process	Flagellated sperm motility	IBA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	24360805
GO:0030317	Process	Flagellated sperm motility	IMP	27798045
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IBA
GO:0036126	Component	Sperm flagellum	IDA	11371505, 24360805
GO:0036126	Component	Sperm flagellum	IEA
GO:0036156	Component	Inner dynein arm	IDA	24360805
GO:0036156	Component	Inner dynein arm	IEA
GO:0036159	Process	Inner dynein arm assembly	IDA	24360805
GO:0036159	Process	Inner dynein arm assembly	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0060285	Process	Cilium-dependent cell motility	NAS	9373155
GO:0060294	Process	Cilium movement involved in cell motility	IEA

MIM	HGNC	e!Ensembl
603332	2940	ENSG00000114841

Q9P2D7

Protein name

Dynein axonemal heavy chain 1 (Axonemal beta dynein heavy chain 1) (Ciliary dynein heavy chain 1) (Heat shock regulated protein 1) (HSRF-1) (hDHC7)

Protein function

Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in sperm

PDB

8I3J , 8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08393	DHC_N2	1013 → 1416	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1543 → 1869	Hydrolytic ATP binding site of dynein motor region	Domain
PF17852	Dynein_AAA_lid	2037 → 2183	Dynein heavy chain AAA lid domain	Domain
PF12775	AAA_7	2188 → 2369		Domain
PF17857	AAA_lid_1	2412 → 2507	AAA+ lid domain	Domain
PF12780	AAA_8	2556 → 2817	P-loop containing dynein motor region D4	Domain
PF12777	MT	2830 → 3180	Microtubule-binding stalk of dynein motor	Domain
PF12781	AAA_9	3204 → 3425	ATP-binding dynein motor region	Domain
PF03028	Dynein_heavy	3668 → 3782	Dynein heavy chain region D6 P-loop domain	Domain
PF18198	AAA_lid_11	3796 → 3953	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	3959 → 4261	Dynein heavy chain C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain (PubMed:11175280). {ECO:0000269|PubMed:11175280, ECO:0000269|PubMed:24360805, ECO:0000269|PubMed:9256245}.

Sequence

MEQPNSKGYSLGRTPQGPECSSAPAVQVGTHRGLEYNPGKILPGSDYGLGNPPALDPKLP
HLPLPPAPPTLSDLGQPRKSPLTGTDKKYPLMKQRGFYSDILSPGTLDQLGEVCRGPRMS
QNLLRQADLDKFTPRVGSFEVPEDFQERMEQQCIGSTTRLLAQTDFPLQAYEPKMQVPFQ
VLPGQHPRKIEIERRKQQYLSLDIEQLLFSQGIDSNKLMPRHLDHQHPQTIEQGHDPIFP
IYLPLKVFDNEDFDCRTPREWINMGLEPGSLDRKPVPGKALLPTDDFLGHEDPKSQKLKY
KWCEVGVLDYDEEKKLYLVHKTDEKGLVRDEMGRPILNAGVTTEGRPPLQVCQYWVPRIQ
LLFCAEDPCMFAQRVVQANALRKNTEALLLYNLYVDCMPSDGQHVISEQSLSKIKQWALS
TPRMRKGPSVLEHLSSLAREVSLDYERSMNKINFDHVVSSKPETFSYVTLPKKEEEQVPE
RGLVSVPKYHFWEQKEDFTFVSLLTRPEVITALSKVRAECNKVTAMSLFHSSLSKYSHLE
EFEQIQSQTFSQVQMFLKDSWISSLKVAMRSSLRDMSKGWYNLYETNWEVYLMSKLRKLM
ELVKYMLQDTLRFLVQDSLASFSQFISDTCCSVLNCTDDMVWGDDLINSPYRPRKNPLFI
MDLVLDSSGVHYSTPLEQFEASLLNLFDKGILATHAVPQLEKLVMEDIFISGDPLLESVG
LHEPLVEELRATIASAVSKAMIPLQAYAKEYRKYLELNNNDIASFLKTYQTQGLLAQEVR
EVVLTHLREKEILDSSLPSSIIIGPFYINTDNVKQSLSKKRKALATSVLDILAKNLHKEV
DSICEEFRSISRKIYEKPNSIEELAELREWMKGIPERLVGLEERIVKVMDDYQVMDEFLY
NLSSDDFNDKWIASNWPSKILGQIELVQQQHVEDEEKFRKIQIMDQNNFQEKLEGLQLVV
AGFSIHVEISRAHEIANEVRRVKKQLKDCQQLAMLYNNRERIFSLPITNYDKLSRMVKEF
QPYLDLWTTASDWLRWSESWMNDPLSAIDAEQLEKNVVEAFKTMHKCVKQFKDMPACQEV
ALDIRARIEEFKPYIPLIQGLRNPGMRIRHWETLSNQININVRPKANLTFARCLEMNLQD
HIESISKVAEVAGKEYAIEQALDKMEKEWSTILFNVLPYKATDTYILKSPDEASQLLDDH
IVMTQNMSFSPYKKPFEQRINSWENKLKLTQEVLEEWLNCQRSWLYLEPIFSSEDINQQL
PVESKRYQTMERIWKKIMKNAYENREVINVCSDLRMLDSLRDCNKILDLVQKGLSEYLET
KRSAFPRFYFLSDDELLEILSQTKDPTAVQPHLRKCFENIARLLFQEDLEITHMYSAEGE
EVQLCFSIYPSSNVEDWLREVERSMKASVHDIIEKAIRAYPTMPRTQWVLNWPGQVTIAG
CQTYWTMEVAEALEAGNLRSQLFPQLCQQLSDLVALVRGKLSRMQRAVLSALIVIEVHAK
DVVSKLIQENVVSVNDFQWISQLRYYWTNNDLYIRAVNAEFIYGYEYLGNSGRLVITPLT
DRCYLTLTGALHLKFGGAPAGPAGTGKTETTKDLGKALAIQTVVFNCSDQLDFMAMGKFF
KGLASAGAWACFDEFNRIDIEVLSVVAQQITTIQKAQQQRVERFMFEGVEIPLVPSCAVF
ITMNPGYAGRTELPDNLKALFRPVAMMVPDYAMITEISLYSFGFNEASVLAKKITTTFKL
SSEQLSSQDHYDFGMRAVKTVISAAGNLKRENPSMNEELICLRAIRDVNVPKFLQEDLKL
FSGIVSDLFPTIKEEDTDYGILDEAIREACRNSNLKDVEGFLTKCIQLYETTVVRHGLML
VGPTGSGKSTCYRVLAAAMTSLKGQPSISGGMYEAVNYYVLNPKSITMGQLYGEFDLLTH
EWTDGIFSSFIRAGAITSDTNKKWYMFDGPVDAIWIENMNTVLDDNKKLCLSSGEIIKLT
EAMTMMFEVQDLAVASPATVSRCGMVYLEPSILGLMPFIECWLRKLPPLLKPYEEHFKAL
FVSFLEESISFVRSSVKEVIASTNCNLTMSLLKLLDCFFKPFLPREGLKKIPSEKLSRIV
ELIEPWFIFSLIWSVGATGDSSGRTSFSHWLRLKMENEQLTLLFPEEGLVFDYRLEDAGI
SGTNDSEDEEEEYKQVAWVKWMDSSAPFTMVPDTNYCNIIVPTMDTVQMSHLLDMLLTNK
KPVLCIGPTGTGKTLTISDKLLKNLALDYISHFLTFSARTSANQTQDFIDSKLDKRRKGV
FGPPLGRNFIFFIDDLNMPALETYGAQPPIELLRQWMDHGGWYDRKIIGAFKNLVDINFV
CAMGPPGGGRNTVTPRLMRHFNYLSFAEMDEVSKKRIFSTILGNWLDGLLGEKSYRERVP
GAPHIAHFTEPLVEATIMVYATITSQLLPTPAKSHYTFNLRDLSKVFQGMLMADPAKVED
QVQLLRLWYHENCRVFRDRLVNEEDRSWFDQLLKRCMEQWEVTFNKVCPFQPILYGDFMS
PGSDVKSYELITSESKMMQVIEEYIEDYNQINTAKLKLVLFMDAMSHICRISRTLRQALG
NALLLGVGGSGRSSLTRLASHMAEYECFQIELSKNYGMSEWRDDVKKVLLKAGLQNLPIT
FLFSDTQIKNESFLEDINNVLNSGDIPNLYTADEQDQIVSTMRPYIQEQGLQPTKANLMA
AYTGRVRSNIHMVLCMSPIGEVFRARLRQFPSLVNCCTIDWFNEWPAEALKSVATVFLNE
IPELESSQEEIQGLIQVCVYIHQSVSKKCIEYLAELTRHNYVTPKSYLELLHIFSILIGQ
KKLELKTAKNRMKSGLDKLLRTSEDVAKMQEDLESMHPLLEEAAKDTMLTMEQIKVDTAI
AEETRNSVQTEEIKANEKAKKAQAIADDAQKDLDEALPALDAALASLRNLNKNDVTEVRA
MQRPPPGVKLVIEAVCIMKGIKPKKVPGEKPGTKVDDYWEPGKGLLQDPGHFLESLFKFD
KDNIGDVVIKAIQPYIDNEEFQPATIAKVSKACTSICQWVRAMHKYHFVAKAVEPKRQAL
LEAQDDLGVTQRILDEAKQRLREVEDGIATMQAKYRECITKKEELELKCEQCEQRLGRAG
KLINGLSDEKVRWQETVENLQYMLNNISGDVLVAAGFVAYLGPFTGQYRTVLYDSWVKQL
RSHNVPHTSEPTLIGTLGNPVKIRSWQIAGLPNDTLSVENGVINQFSQRWTHFIDPQSQA
NKWIKNMEKDNGLDVFKLSDRDFLRSMENAIRFGKPCLLENVGEELDPALEPVLLKQTYK
QQGNTVLKLGDTVIPYHEDFRMYITTKLPNPHYTPEISTKLTLINFTLSPSGLEDQLLGQ
VVAEERPDLEEAKNQLIISNAKMRQELKDIEDQILYRLSSSEGNPVDDMELIKVLEASKM
KAAEIQAKVRIAEQTEKDIDLTRMEYIPVAIRTQILFFCVSDLANVDPMYQYSLEWFLNI
FLSGIANSERADNLKKRISNINRYLTYSLYSNVCRSLFEKHKLMFAFLLCVRIMMNEGKI
NQSEWRYLLSGGSISIMTENPAPDWLSDRAWRDILALSNLPTFSSFSSDFVKHLSEFRVI
FDSLEPHREPLPGIWDQYLDQFQKLLVLRCLRGDKVTNAMQDFVATNLEPRFIEPQTANL
SVVFKDSNSTTPLIFVLSPGTDPAADLYKFAEEMKFSKKLSAISLGQGQGPRAEAMMRSS
IERGKWVFFQNCHLAPSWMPALERLIEHINPDKVHRDFRLWLTSLPSNKFPVSILQNGSK
MTIEPPRGVRANLLKSYSSLGEDFLNSCHKVMEFKSLLLSLCLFHGNALERHKFGPLGFN
IPYEFTDGDLRICISQLKMFLDEYDDIPYKVLKYTAGEINYGGRVTDDWDRRCIMNILED
FYNPDVLSPEHSYSASGIYHQIPPTYDLHGYLSYIKSLPLNDMPEIFGLHDNANITFAQN
ETFALLGTIIQLQPKSSSAGSQGREEIVEDVTQNILLKVPEPINLQWVMAKYPVLYEESM
NTVLVQEVIRYNRLLQVITQTLQDLLKALKGLVVMSSQLELMAASLYNNTVPELWSAKAY
PSLKPLSSWVMDLLQRLDFLQAWIQDGIPAVFWISGFFFPQAFLTGTLQNFARKFVISID
TISFDFKVMFEAPSELTQRPQVGCYIHGLFLEGARWDPEAFQLAESQPKELYTEMAVIWL
LPTPNRKAQDQDFYLCPIYKTLTRAGTLSTTGHSTNYVIAVEIPTHQPQRHWIKRGVALI
CALDY

Sequence length

4265

Interactions

View interactions

	KEGG
	Motor proteins Amyotrophic lateral sclerosis Huntington disease Pathways of neurodegeneration - multiple diseases

4132

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ciliary dyskinesia, primary, 37	Pathogenic; Likely pathogenic	rs778209826, rs752041071, rs772998828, rs367692811, rs371940272, rs2153224037, rs1415820936, rs1701192142, rs759219188, rs1483000682, rs2153223851, rs1247282335, rs368033879, rs1268065530, rs1182690810 View all (61 more)	RCV001963188 RCV001946628 RCV003780598 RCV005224558 RCV001335757 RCV001380692 RCV001650493 RCV001784113 RCV002028664 RCV002003123 RCV001923667 RCV001993316 RCV001913123 RCV003067199 RCV003061336 RCV003095412 RCV003099086 RCV003111906 RCV003112240 RCV002580631 RCV002597959 RCV002765410 RCV002726684 RCV002790326 RCV000495957 RCV002806464 RCV002820435 RCV002889576 RCV002894067 RCV002866293 RCV002881752 RCV002899488 RCV003023572 RCV003047778 RCV003047610 RCV003061823 RCV003232891 RCV003493276 RCV003785817 RCV003786017 RCV003784380 RCV003784390 RCV003797864 RCV003796017 RCV003780264 RCV003780494 RCV003788865 RCV003789433 RCV003785097 RCV003796184 RCV003798234 RCV003794625 RCV003791503 RCV003805505 RCV003804138 RCV003808704 RCV003802051 RCV003810111 RCV003812506 RCV003807240 RCV003805228 RCV004796206 RCV000554728 RCV002527960 RCV001390769 RCV000655824 RCV000655801 RCV000655816 RCV000702057 RCV000689405 RCV000799613 RCV001061508 RCV004994250 RCV004994251 RCV001217224 RCV001222655 RCV002568747
DNAH1-related disorder	Pathogenic; Likely pathogenic	rs778209826, rs2471291875, rs2471221603, rs2471245358, rs1703538852, rs1483082477, rs767196276	RCV005232744 RCV003406163 RCV003422453 RCV003404469 RCV003392875 RCV003893396 RCV003420001
Kartagener syndrome	Likely pathogenic	rs544674332	RCV000190948
Non-syndromic male infertility due to sperm motility disorder	Likely pathogenic	rs753307279	RCV000825634
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs772998828, rs369746640	RCV005934884 RCV005909054
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs779490893, rs746049858, rs765688686	RCV005355997 RCV005357622 RCV001255289
Spermatogenic failure 18	Pathogenic; Likely pathogenic	rs778209826, rs752041071, rs772998828, rs367692811, rs2153224037, rs1415820936, rs759219188, rs1483000682, rs2153223851, rs1247282335, rs368033879, rs1268065530, rs1182690810, rs778973398, rs1020480721 View all (59 more)	RCV001963188 RCV001946628 RCV003780598 RCV005224558 RCV001380692 RCV001873823 RCV002028664 RCV002003123 RCV001923667 RCV001993316 RCV001913123 RCV003067199 RCV003061336 RCV003095412 RCV003099086 RCV003111906 RCV003112240 RCV002580631 RCV002597959 RCV002765410 RCV002726684 RCV002790326 RCV003765209 RCV002806464 RCV002820435 RCV002889576 RCV002894067 RCV002866293 RCV002881752 RCV002899488 RCV003023572 RCV003047778 RCV003047610 RCV003061823 RCV003153289 RCV003785817 RCV003786017 RCV003784380 RCV003784390 RCV003797864 RCV003796017 RCV003780264 RCV003780494 RCV003788865 RCV003789433 RCV003785097 RCV003796184 RCV003798234 RCV003794625 RCV003791503 RCV003805505 RCV003804138 RCV003808704 RCV003802051 RCV003810111 RCV003812506 RCV003807240 RCV003805228 RCV000495956 RCV000495959 RCV000495955 RCV000495960 RCV000554728 RCV000554092 RCV001390769 RCV000655824 RCV000655801 RCV000655816 RCV000702057 RCV000689405 RCV000799613 RCV001061508 RCV001217224 RCV001222655 RCV002568747 RCV001290741

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs13075370, rs79759639, rs140592948, rs201299120, rs149183773	RCV005921779 RCV005924767 RCV005928116 RCV005898490 RCV005900398
Adams-Oliver syndrome 6	Uncertain significance	rs371364322	RCV005863293
Adrenocortical carcinoma, hereditary	Likely benign	rs201299120	RCV005898491
Cervical cancer	Uncertain significance	rs199502930	RCV005924341
Cholangiocarcinoma	Benign	rs11721277	RCV005923184
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs201299120	RCV005898494
Clear cell carcinoma of kidney	Likely benign; Benign	rs201299120, rs61734637	RCV005898492 RCV005898487
Familial cancer of breast	Benign; Likely benign	rs79759639, rs201299120, rs201064587	RCV005924766 RCV005898489 RCV005900394
Familial pancreatic carcinoma	Likely benign	rs199779498	RCV005928203
Gastric cancer	Benign; Likely benign	rs11721277, rs79759639, rs149183773, rs201064587	RCV005923182 RCV005924768 RCV005900399 RCV005900396
Hepatocellular carcinoma	Benign; Likely benign	rs201064587	RCV005900395
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	rs1215558613, rs374798612	RCV005626747 RCV005625684
Lung cancer	Benign; Likely benign	rs77639782, rs149183773	RCV005898488 RCV005900400
Malignant lymphoma, large B-cell, diffuse	Benign	rs11721277	RCV005923181
Malignant tumor of esophagus	Benign; Likely benign	rs142472916, rs61734637	RCV005924711 RCV005898486
Oligosynaptic infertility	Uncertain significance	rs200158571	RCV001535571
Premature ovarian insufficiency	Benign; Likely benign; Uncertain significance	rs61734644, rs376796307	RCV000766153 RCV000766154
Sarcoma	Benign; Uncertain significance	rs142472916, rs199813499	RCV005924712 RCV005898203
Thyroid cancer, nonmedullary, 1	Likely benign	rs201299120	RCV005898493
Uterine carcinosarcoma	Benign	rs11721277	RCV005923183
Uterine corpus endometrial carcinoma	Benign	rs13075370, rs79759639, rs142472916	RCV005921781 RCV005924769 RCV005924713

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Multiple	Associate	28577616, 36510862
Asthenozoospermia	Associate	28577616, 30544445
Azoospermia	Associate	30544445
Azoospermia Nonobstructive	Associate	36017582
Bronchiolitis Obliterans	Associate	33577779
Ciliary Motility Disorders	Associate	24360805, 33577779, 37998386
Deafness Cataract Retinitis Pigmentosa And Sperm Abnormalities	Associate	30122541, 37302001
Fibrous Dysplasia of Bone	Associate	28577616
Infertility	Associate	24360805, 28577616, 36510862, 36896575
Infertility Male	Associate	24360805, 30544445, 35017386, 36896575, 37302001
Ocular Motility Disorders	Associate	34089056

DNAH1 (dynein axonemal heavy chain 1)