Gene: [10q243/PYCS] pyrroline-5-carboxylate synthetase, delta 1-; glutamate 5-kinase (gamma-glutamyl kinase; GK; EC:2.7.2.11); glutamate-5-semialdehyde dehydrogenase (glutamate gamma-semialdehyde synthetase; GSAS; EC:1.2.1.41);

COM

Jones-1976 assigned the PYCS gene to Chr 10. Liu-1996 refined the location to Chr 10q24.3 by fluorescence in situ hybridization."

FUN

Delta-1-pyrroline-5-carboxylate synthetase (P5CS) catalyzes the ATP-dependent (EC:2.7.2.11) and NADPH-dependent (EC:1.2.1.41) conversion of L-glutamate to glutamic gamma-semialdehyde, which is the metabolic precursor for proline biosynthesis."

REF

CLO,SEQ "Aral B &: CR Acad Sci III, 319, 171-178, 1996
LOC "Jones C &: CCG, 16, 387-390, 1976
LOC,FAG "Jones C &: Somat Cell Genet, 1, 345-354, 1975
LOC "Liu G &: Genomics, 37, 145-146, 1996

KEY

aac

CLA

coding, basic

LOC

10 q24.3

MIM

MIM: 138250

EZN

ENZYME: 2.7.2.11

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