GULOP - gulonolactone (L-) oxidase, pseudogene Gene
Also Known as GULO; SCURVY
生物種: Homo sapiens
About GULOP
Summary
This gene is nonfunctional in humans and Other primates. In most mammalian species the corresponding gene encodes L-gulono-gamma-lactone oxidase which catalyzes the last step of ascorbic acid biosynthesis. The human gene is a remnant that lacks five of twelve exons found in functional rodent genes. The loss of enzyme activity results in hypoascorbemia or the inability to synthesize vitamin C. [provided by RefSeq, Nov 2010]
関連疾患
| Diseases | Alias | |
|---|---|---|
| Hypoascorbemia |
|
|