ALDH6A1

GENE INFORMATION

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Gene name

ALDH6A1 (HGNC Symbol)

Synonyms

MMSDH

Description

aldehyde dehydrogenase 6 family, member A1 (HGNC Symbol)

Entrez gene 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]

Chromosome

14 (Chromosome progress)

Cytoband

q24.3

Chromosome location (bp)

74523553 - 74551196

Ensembl

ENSG00000119711 (version 73.37)

Entrez gene

4329

UniProt

Q02252 (UniProt - Evidence at protein level)

neXtProt

NX_Q02252

Antibodypedia

ALDH6A1 antibodies
 

PROTEIN VIEW

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ALDH6A1-001
 
ALDH6A1-002
 
ALDH6A1-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALDH6A1-001 ENSP00000450436
ENST00000553458
Q02252
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Show » Show » 535 57.8 No 1
ALDH6A1-002 ENSP00000342564
ENST00000350259
J3KNU8
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Show » Show » 522 56.2 No 1
ALDH6A1-007 ENSP00000452081
ENST00000555126
G3V4Z4
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Show » 252 27 No 0