Primary Identifier | MGI:1919386 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 72136 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable N-acetylgalactosamine 4-O-sulfotransferase activity. Predicted to be involved in dermatan sulfate proteoglycan metabolic process. Predicted to act upstream of or within dermatan sulfate biosynthetic process. Predicted to be located in Golgi membrane. Is expressed in several structures, including brain; liver; and retina. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome musculocontractural type 1. Orthologous to human CHST14 (carbohydrate sulfotransferase 14). PHENOTYPE: Mice homozygous for a knock-out allele exhibit accelerated peripheral nerve regeneration, decreased body weight, premature death, fragile skin and background sensitive abnormal fertility, kinked tail and tooth growth. [provided by MGI curators] |