ALDH6A1 - aldehyde dehydrogenase 6 family member A1 Gene

Homo sapiens

Also known as MMSDH; MMSADHA

Gene ID: 4329 | Gene type: protein coding

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

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)

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

Bioactive Molecules (1)

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

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