ALDH18A1

GENE INFORMATION

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Gene name

ALDH18A1 (HGNC Symbol)

Synonyms

GSAS, P5CS, PYCS

Description

aldehyde dehydrogenase 18 family, member A1 (HGNC Symbol)

Entrez gene summary

This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]

Chromosome

10 (Chromosome progress)

Cytoband

q24.1

Chromosome location (bp)

97365696 - 97416463

Ensembl

ENSG00000059573 (version 73.37)

Entrez gene

5832

UniProt

P54886 (UniProt - Evidence at protein level)

neXtProt

NX_P54886

Antibodypedia

ALDH18A1 antibodies
 

PROTEIN VIEW

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ALDH18A1-001
 
ALDH18A1-002
 
 
 
 
 

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)

ALDH18A1-001 ENSP00000360268
ENST00000371224
P54886
Show all »
Show » Show » 795 87.3 No 0
ALDH18A1-002 ENSP00000360265
ENST00000371221
P54886
Show all »
Show » Show » 793 87.1 No 0