QuickView for P5CS (gene)

Gene Symbol:

ALDH18A1 Homo sapiens

Full name:

aldehyde dehydrogenase 18 family member A1

Synonyms:

ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B, delta-1-pyrroline-5-carboxylate synthase, Spastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts and gastroesophageal reflux), aldehyde dehydrogenase family 18 member A1, delta-1-pyrroline-5-carboxylate synthetase, delta1-pyrroline-5-carboxlate synthetase, pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase), spastic paraplegia 9 (autosomal dominant)

Genomic Location:

Chr 10: 97355676-97406557

Description:

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

MYC_Q2 ,  TTTTGAG_MIR373 ,  CACGTG_MYC_Q2 ,  CTCNANGTGNY_UNKNOWN ,  GATA1_04 ,  NMYC_01 ,  CREB_Q2 ,  USF2_Q6

Cytogenetic Map:

10q24.1

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