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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4329
Gene name	Aldehyde dehydrogenase 6 family member A1
Gene symbol	ALDH6A1
Synonyms (NCBI Gene)	MMSADHAMMSDH
Chromosome	14
Chromosome location	14q24.3
Summary	This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irrever

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Show/Hide all (143)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052812	hsa-miR-320e	CLASH	23622248
MIRT705799	hsa-miR-3126-3p	HITS-CLIP	23313552
MIRT705798	hsa-miR-3937	HITS-CLIP	23313552
MIRT705797	hsa-miR-4794	HITS-CLIP	23313552
MIRT705796	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT705795	hsa-miR-149-5p	HITS-CLIP	23313552
MIRT705794	hsa-miR-3064-5p	HITS-CLIP	23313552
MIRT705793	hsa-miR-6504-5p	HITS-CLIP	23313552
MIRT705792	hsa-miR-6776-5p	HITS-CLIP	23313552
MIRT705791	hsa-miR-1827	HITS-CLIP	23313552
MIRT705790	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT705789	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT705788	hsa-miR-6847-3p	HITS-CLIP	23313552
MIRT705787	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT705786	hsa-miR-3652	HITS-CLIP	23313552
MIRT705785	hsa-miR-4430	HITS-CLIP	23313552
MIRT705784	hsa-miR-6772-5p	HITS-CLIP	23313552
MIRT705783	hsa-miR-609	HITS-CLIP	23313552
MIRT705782	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT705781	hsa-miR-6842-3p	HITS-CLIP	23313552
MIRT705780	hsa-miR-3680-3p	HITS-CLIP	23313552
MIRT660770	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660769	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660767	hsa-miR-4282	HITS-CLIP	23824327
MIRT660768	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT660766	hsa-miR-623	HITS-CLIP	23824327
MIRT660765	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT660764	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660763	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT660762	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT660761	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT660760	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT660759	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT660758	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT660757	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT660756	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT660755	hsa-miR-4284	HITS-CLIP	23824327
MIRT660754	hsa-miR-1297	HITS-CLIP	23824327
MIRT660753	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT660752	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT660751	hsa-miR-4465	HITS-CLIP	23824327
MIRT660750	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT660749	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT705797	hsa-miR-4794	PAR-CLIP	27292025
MIRT705797	hsa-miR-4794	PAR-CLIP	27292025
MIRT705796	hsa-miR-664a-5p	PAR-CLIP	27292025
MIRT705796	hsa-miR-664a-5p	PAR-CLIP	27292025
MIRT705799	hsa-miR-3126-3p	HITS-CLIP	23313552
MIRT705798	hsa-miR-3937	HITS-CLIP	23313552
MIRT705797	hsa-miR-4794	HITS-CLIP	23313552
MIRT705796	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT705795	hsa-miR-149-5p	HITS-CLIP	23313552
MIRT705794	hsa-miR-3064-5p	HITS-CLIP	23313552
MIRT705793	hsa-miR-6504-5p	HITS-CLIP	23313552
MIRT705792	hsa-miR-6776-5p	HITS-CLIP	23313552
MIRT705791	hsa-miR-1827	HITS-CLIP	23313552
MIRT705790	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT705789	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT705788	hsa-miR-6847-3p	HITS-CLIP	23313552
MIRT705787	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT705786	hsa-miR-3652	HITS-CLIP	23313552
MIRT705785	hsa-miR-4430	HITS-CLIP	23313552
MIRT705784	hsa-miR-6772-5p	HITS-CLIP	23313552
MIRT705783	hsa-miR-609	HITS-CLIP	23313552
MIRT705782	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT705781	hsa-miR-6842-3p	HITS-CLIP	23313552
MIRT705780	hsa-miR-3680-3p	HITS-CLIP	23313552
MIRT660770	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660769	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660767	hsa-miR-4282	HITS-CLIP	23824327
MIRT660768	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT660766	hsa-miR-623	HITS-CLIP	23824327
MIRT660765	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT660764	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660763	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT660762	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT660761	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT660760	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT660759	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT660758	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT660757	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT660756	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT660755	hsa-miR-4284	HITS-CLIP	23824327
MIRT660754	hsa-miR-1297	HITS-CLIP	23824327
MIRT660753	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT660752	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT660751	hsa-miR-4465	HITS-CLIP	23824327
MIRT660750	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT660749	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT777646	hsa-miR-1200	CLIP-seq
MIRT777647	hsa-miR-1343	CLIP-seq
MIRT777648	hsa-miR-1913	CLIP-seq
MIRT777649	hsa-miR-3200-5p	CLIP-seq
MIRT777650	hsa-miR-320a	CLIP-seq
MIRT777651	hsa-miR-320b	CLIP-seq
MIRT777652	hsa-miR-320c	CLIP-seq
MIRT777653	hsa-miR-320d	CLIP-seq
MIRT777654	hsa-miR-324-3p	CLIP-seq
MIRT777655	hsa-miR-378g	CLIP-seq
MIRT777656	hsa-miR-3915	CLIP-seq
MIRT777657	hsa-miR-3928	CLIP-seq
MIRT777658	hsa-miR-3942-3p	CLIP-seq
MIRT777659	hsa-miR-4303	CLIP-seq
MIRT777660	hsa-miR-4324	CLIP-seq
MIRT777661	hsa-miR-4429	CLIP-seq
MIRT777662	hsa-miR-4437	CLIP-seq
MIRT777663	hsa-miR-4503	CLIP-seq
MIRT777664	hsa-miR-4540	CLIP-seq
MIRT777665	hsa-miR-4674	CLIP-seq
MIRT777666	hsa-miR-4699-5p	CLIP-seq
MIRT777667	hsa-miR-4706	CLIP-seq
MIRT777668	hsa-miR-4749-5p	CLIP-seq
MIRT777669	hsa-miR-4787-5p	CLIP-seq
MIRT777670	hsa-miR-544b	CLIP-seq
MIRT777671	hsa-miR-630	CLIP-seq
MIRT777672	hsa-miR-633	CLIP-seq
MIRT777673	hsa-miR-744	CLIP-seq
MIRT1929598	hsa-miR-3121-3p	CLIP-seq
MIRT1929599	hsa-miR-3646	CLIP-seq
MIRT1929600	hsa-miR-371b-5p	CLIP-seq
MIRT777658	hsa-miR-3942-3p	CLIP-seq
MIRT1929601	hsa-miR-4289	CLIP-seq
MIRT777663	hsa-miR-4503	CLIP-seq
MIRT1929602	hsa-miR-4698	CLIP-seq
MIRT1929603	hsa-miR-4709-3p	CLIP-seq
MIRT1929604	hsa-miR-4775	CLIP-seq
MIRT1929605	hsa-miR-4777-3p	CLIP-seq
MIRT1929606	hsa-miR-539	CLIP-seq
MIRT1929607	hsa-miR-590-3p	CLIP-seq
MIRT777672	hsa-miR-633	CLIP-seq
MIRT2170430	hsa-miR-2682	CLIP-seq
MIRT777649	hsa-miR-3200-5p	CLIP-seq
MIRT2170431	hsa-miR-376a	CLIP-seq
MIRT2170432	hsa-miR-376b	CLIP-seq
MIRT777658	hsa-miR-3942-3p	CLIP-seq
MIRT1929601	hsa-miR-4289	CLIP-seq
MIRT2170433	hsa-miR-449c	CLIP-seq
MIRT2170434	hsa-miR-4704-5p	CLIP-seq
MIRT1929606	hsa-miR-539	CLIP-seq
MIRT2170435	hsa-miR-940	CLIP-seq
MIRT2674905	hsa-miR-127-5p	CLIP-seq
MIRT2674906	hsa-miR-3613-3p	CLIP-seq
MIRT1929599	hsa-miR-3646	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004491	Function	Methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity	IBA
GO:0004491	Function	Methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity	IEA
GO:0004491	Function	Methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity	IMP	23835272
GO:0004491	Function	Methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity	ISS
GO:0004491	Function	Methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	1527093
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006210	Process	Thymine catabolic process	IBA
GO:0006210	Process	Thymine catabolic process	IMP	23835272
GO:0006573	Process	Valine metabolic process	ISS
GO:0006574	Process	L-valine catabolic process	IBA
GO:0006574	Process	L-valine catabolic process	IMP	23835272
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0018478	Function	Malonate-semialdehyde dehydrogenase (acetylating) activity	IEA
GO:0019859	Process	Thymine metabolic process	ISS
GO:0050873	Process	Brown fat cell differentiation	IEA

MIM	HGNC	e!Ensembl
603178	7179	ENSG00000119711

Q02252

Protein name

Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) (EC 1.2.1.27) (Aldehyde dehydrogenase family 6 member A1) (Malonate-semialdehyde dehydrogenase [acylating])

Protein function

Malonate and methylmalonate semialdehyde dehydrogenase involved in the catabolism of valine, thymine, and compounds catabolized by way of beta-alanine, including uracil and cytidine.

PDB

8XXQ , 9IZU , 9IZV , 9IZW , 9IZX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00171	Aldedh	48 → 512	Aldehyde dehydrogenase family	Family

Sequence

MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIH
NPATNEVIGRVPQATKAEMDAAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIA
KLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCA
GIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHG
QHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKEN
TLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLIT
PQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFG
PVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLP
MFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR

Sequence length

535

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation beta-Alanine metabolism Inositol phosphate metabolism Propanoate metabolism Metabolic pathways Carbon metabolism		Branched-chain amino acid catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Methylmalonate semialdehyde dehydrogenase deficiency	Pathogenic	rs879255579, rs796065046, rs367863044, rs869320672, rs72552258, rs775391997	RCV000190332 RCV000190333 RCV000190334 RCV000190335 RCV000006996 RCV001171366 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALDH6A1-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	32711556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amino Acid Metabolism, Inborn Errors	Disorder of amino acid metabolism	CTD_human_DG	10947204		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amino Acid Metabolism, Inherited Disorders	Inherited Errors of Amino Acid Metabolism	CTD_human_DG	10947204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28430663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30793530, 31746384, 32737333, 33686951, 35096270, 39348357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32093682	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24555920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31746384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	23835272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	Developmental Delay	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25099943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29090925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	10971205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29986096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonate Semialdehyde Dehydrogenase Deficiency	UNIPROT_DG	10947204		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonate Semialdehyde Dehydrogenase Deficiency	CLINGEN_DG	10947204, 21863277, 23835272		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonate Semialdehyde Dehydrogenase Deficiency	ORPHANET_DG	10971205, 21863277		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonate Semialdehyde Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonate Semialdehyde Dehydrogenase Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonate Semialdehyde Dehydrogenase Deficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	23835272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	20882379		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	36098688	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

ALDH6A1 (aldehyde dehydrogenase 6 family member A1)