Primary Identifier | MGI:1353434 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 268756 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables L-gulonolactone oxidase activity and flavin adenine dinucleotide binding activity. Involved in L-ascorbic acid biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Is expressed in several structures, including cranium; liver; nasal septum; nervous system; and pancreas. Orthologous to human GULOP (gulonolactone (L-) oxidase, pseudogene). PHENOTYPE: Homozygotes for spontaneous mutations exhibit impaired growth and mobility, decreased spleen and thymus weights, reduced serum calcium, phosphate, alkaline phosphatase, IGF1, and osteocalcin levels, and small, fragile and histologically abnormal bones. [provided by MGI curators] |