Primary Identifier | MGI:1931825 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 56773 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N-acetylglucosamine 6-O-sulfotransferase activity. Involved in N-acetylglucosamine metabolic process and keratan sulfate biosynthetic process. Predicted to be located in Golgi apparatus. Predicted to be active in trans-Golgi network. Is expressed in several structures, including limb; pharynx; respiratory system; skeleton; and tail. Human ortholog(s) of this gene implicated in macular corneal dystrophy. Orthologous to several human genes including CHST6 (carbohydrate sulfotransferase 6). PHENOTYPE: Homozygous mutation of this gene results in thinner corneas that show abnormally close collagen fibrillar packing. [provided by MGI curators] |