Primary Identifier | MGI:1352500 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 29807 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables thiamine diphosphokinase activity. Involved in thiamine diphosphate biosynthetic process. Acts upstream of or within thiamine metabolic process. Is active in cytosol. Is expressed in several structures, including gonad; heart; liver; lung; and spleen. Human ortholog(s) of this gene implicated in inherited metabolic disorder. Orthologous to human TPK1 (thiamin pyrophosphokinase 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. [provided by MGI curators] |