ALDH6A1 - aldehyde dehydrogenase 6 family member A1 Gene

Also Known as MMSDH; MMSADHA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4329

About ALDH6A1

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:74,056,847-74,084,453 (from NCBI)

This gene has 7 transcripts (splice variants), 264 orthologues, 17 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 142.3), liver (RPKM 67.8) and 11 other tissues.

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 irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

ALDH6A1 Products (3)

mRNA	Protein	Name
NM_001278593.2	NP_001265522.1	methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 2 precursor
NM_001278594.2	NP_001265523.1	methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 3
NM_005589.4	NP_005580.1	methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity	IMP IMP: Inferred from mutant phenotype	23835272	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in thymine catabolic process	IMP IMP: Inferred from mutant phenotype	23835272	GOA
involved in valine catabolic process	IMP IMP: Inferred from mutant phenotype	23835272	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALDH6A1 Protein Structure

Aldedh

0
100
200
300
400
500
535 a.a.

Protein Preferred Names	Protein Names
methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial	malonate-semialdehyde dehydrogenase (acetylating)

ALDH6A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84469	ALDH6A1 Antibody (YA4166)	WB, IHC-P, ICC/IF, FC, ELISA	Human
HY-P84469A	ALDH6A1 Antibody (YA4166)(PBS only)	WB, IHC-P, ICC/IF, FC, ELISA	Human

Related Diseases

Diseases	Alias
Methylmalonate Semialdehyde Dehydrogenase Deficiency	MMSDHD Mmsdh Deficiency Developmental Delay Due To Methylmalonate Semialdehyde Dehydrogenase Deficiency Developmental Delay Due To Aldh6a1 Deficiency Developmental Delay Due To Mmsdh Deficiency
Gamma-Amino Butyric Acid Metabolism Disorder	Disorder Of Gamma-Aminobutyric Acid Metabolism Disorder Of Gaba Metabolism Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism
Succinic Semialdehyde Dehydrogenase Deficiency	4-Hydroxybutyric Aciduria Ssadh Deficiency Gamma-Hydroxybutyric Aciduria Gaba Metabolic Defect SSADHD Ssadh Succinate-Semialdehyde Dehydrogenase Deficiency Gamma-Hydroxybutyricaciduria 4-Hydroxybutyricaciduria Gamma-Hydroxybutyric Acidemia Succinate Semialdehyde Dehydrogenase Deficiency
Hyperprolinemia	Proline Oxidase Deficiency Hyperprolinemia Type 1 Proline Hydrogenase Deficiency Prolinemia Pyrroline Carboxylate Dehydrogenase Deficiency Pyrroline-5-Carboxylate Dehydrogenase Deficiency Proline Dehydrogenase Deficiency Hyperprolinemia Type 2
Hyperprolinemia, Type Ii	Hyperprolinemia Type 2 HYRPRO2 Hpii 1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia Type Ii 1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency Type 2 Hyperprolinemia Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia 2
Mast Syndrome	SPG21 Spastic Paraplegia 21, Autosomal Recessive Autosomal Recessive Spastic Paraplegia Type 21 Autosomal Recessive Spastic Paraplegia 21 Hereditary Spastic Paraplegia 21
Hypermethioninemia	Hepatic Methionine Adenosyltransferase Deficiency Deficiency Of Methionine Adenosyltransferase Glycine N-Methyltransferase Deficiency Met S-Adenosylhomocysteine Hydrolase Deficiency Gnmt Deficiency Mat Deficiency Methionine Adenosyltransferase Deficiency Methioninemia Deficiency Of Acetyl-Coa Acetyltransferase
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00579	ALDH6A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28500	Aldh6a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ALDH6A1	VGNC	VGNC:68294
Mus musculus	ALDH6A1	MGD	MGI:1915077
Macaca mulatta	ALDH6A1	VGNC	VGNC:69819
Rattus norvegicus	ALDH6A1	RGD	RGD:621556
Bos taurus	ALDH6A1	VGNC	VGNC:25817
Canis familiaris	ALDH6A1	VGNC	VGNC:37788
Others	ALDH6A1	NCBI