Primary Identifier | MGI:2451073 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 233781 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein xylosyltransferase activity. Involved in chondroitin sulfate biosynthetic process; embryonic skeletal system development; and ossification involved in bone maturation. Acts upstream of or within cellular response to heat. Located in Golgi cis cisterna. Is active in Golgi apparatus. Is expressed in lens. Human ortholog(s) of this gene implicated in Desbuquois dysplasia; pseudoxanthoma elasticum; and type 1 diabetes mellitus. Orthologous to human XYLT1 (xylosyltransferase 1). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit partial preweaning lethality, impaired chondrocyte maturation and decreased skeletal length. [provided by MGI curators] |