Gene Symbol | PYCR2 |
Entrez Gene ID | 29920 |
Full Name | pyrroline-5-carboxylate reductase 2 |
Synonyms | HLD10,P5CR2 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]. |
Disorder MIM: | |
Disorder Html: | Leukodystrophy, hypomyelinating, 10, 616420 (3) |