Aldehyde Dehydrogenase 18 Family, Member A1

Alternative Names

  • ALDH18A1
  • 1-Pyrroline-5-Carboxylate Synthetase
  • PYCS
  • P5CS
  • Glutamate Gamma-Semialdehyde Synthetase
  • GSAS
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OMIM Number

138250

NCBI Gene ID

5832

Uniprot ID

P54886

Length

50,882 bases

No. of Exons

17

No. of isoforms

2

Protein Name

Delta-1-Pyrroline-5-Carboxylate Synthase

Molecular Mass

87302 Da

Amino Acid Count

795

Genomic Location

chr10:95,605,929-95,656,810

Gene Map Locus
10q24.1

Description

The ALDH18A1 gene encodes a mitochondrial enzyme belonging to the aldehyde dehydrogenase family. This bifunctional enzyme, which has both glutamate 5-kinase activity and glutamate-5-semialdehyde dehydrogenase activity, is involved in the biosynthesis of proline, ornithine and arginine.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002860.4:c.2246G>ALebanonchr10:95606904PathogenicLikely PathogenicCutis Laxa, Autosomal Recessive, Type IIIANG_012258.1:g.54907G>A; NM_002860.4:c.2246G>A; NP_002851.2:p.Arg749Gln748925635807367
NM_002860.4:c.2294G>ALebanonNC_000010.11:g.95606856C>TLikely Pathogenic, PathogenicLikely PathogenicCutis Laxa, Autosomal Recessive, Type IIIANG_012258.1:g.54955G>A; NM_002860.4:c.2294G>A; NP_002851.2:p.Arg765Gln537043237216888
NM_002860.4:c.412C>TJordanNC_000010.11:g.95637328G>APathogenicPathogenicCutis Laxa, Autosomal Dominant 3NG_012258.1:g.24483C>T; NM_002860.4:c.412C>T; NP_001310343.1:p.Arg138Trp863225044217259
NM_002860.4:c.413G>AUnited Arab EmiratesNC_000010.11:g.95637327C>TPathogenicPathogenicCutis Laxa, Autosomal Dominant 3NG_012258.1:g.24484G>A; NM_002860.4:c.413G>A; NP_002851.2:p.Arg138Gln863225045217260
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