Primary Identifier | MGI:2443455 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 212898 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable chondroitin-glucuronate 5-epimerase activity. Predicted to be involved in chondroitin sulfate metabolic process and dermatan sulfate biosynthetic process. Predicted to be located in Golgi apparatus and endoplasmic reticulum. Is expressed in several structures, including brain; cardiovascular system; endocrine gland; genitourinary system; and oral epithelium. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome musculocontractural type 2. Orthologous to human DSE (dermatan sulfate epimerase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and length with altered skin morphology and physiology. [provided by MGI curators] |