Primary Identifier | MGI:1913493 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 59048 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Acts upstream of or within platelet activation; platelet morphogenesis; and protein O-linked glycosylation. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in Tn polyagglutination syndrome and hemolytic-uremic syndrome. Orthologous to human C1GALT1C1 (C1GALT1 specific chaperone 1). PHENOTYPE: Male mice hemizygous for a knock-out allele exhibit embryonic lethality with hemorrhaging. Female mice heterozygous for a knock-out allele exhibit some embryonic lethality with hemorrhage and disorganized vascular system and surviving mice dieing postnatally. [provided by MGI curators] |