ALDH4A1

GENE INFORMATION

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Gene name

ALDH4A1 (HGNC Symbol)

Synonyms

ALDH4, P5CDh

Description

aldehyde dehydrogenase 4 family, member A1 (HGNC Symbol)

Entrez gene summary

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]

Chromosome

1 (Chromosome progress)

Cytoband

p36.13

Chromosome location (bp)

19197926 - 19229275

Ensembl

ENSG00000159423 (version 73.37)

Entrez gene

8659

UniProt

P30038 (UniProt - Evidence at protein level)

neXtProt

NX_P30038

Antibodypedia

ALDH4A1 antibodies
 

PROTEIN VIEW

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ALDH4A1-001
 
ALDH4A1-002
 
ALDH4A1-003
 
ALDH4A1-201
 
ALDH4A1-202
 
 
 
 
 

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)

ALDH4A1-001 ENSP00000364490
ENST00000375341
P30038
Show all »
Show » Show » 563 61.7 No 0
ALDH4A1-002 ENSP00000290597
ENST00000290597
P30038
Show all »
Show » Show » 563 61.7 No 0
ALDH4A1-003 ENSP00000393209
ENST00000432718
Q5TF55
Show all »
Show » 214 23.1 No 0
ALDH4A1-201 ENSP00000442988
ENST00000538309
P30038
Show all »
Show » Show » 503 55.1 No 0
ALDH4A1-202 ENSP00000446071
ENST00000538839
D2D4A3
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Show » Show » 512 56 No 0