Primary Identifier | MGI:2660880 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 331026 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable mannose-1-phosphate guanylyltransferase (GTP) activity. Involved in GDP-mannose biosynthetic process from glucose and GDP-mannose biosynthetic process from mannose. Located in mitochondrion. Is active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; musculoskeletal system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2T; congenital muscular dystrophy-dystroglycanopathy A14; muscular dystrophy-dystroglycanopathy; and muscular dystrophy-dystroglycanopathy type B14. Orthologous to human GMPPB (GDP-mannose pyrophosphorylase B). PHENOTYPE: Mice homozygous for a null mutation die between implantation and placentation. [provided by MGI curators] |