Primary Identifier | MGI:1098221 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 14431 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable guanidinoacetate N-methyltransferase activity and identical protein binding activity. Acts upstream of or within several processes, including creatine biosynthetic process; regulation of growth; and spermatogenesis. Predicted to be located in cytosol. Predicted to be active in cytoplasm and nucleus. Is expressed in brain; foregut-midgut junction; future brain; lens; and liver. Used to study guanidinoacetate methyltransferase deficiency. Human ortholog(s) of this gene implicated in amino acid metabolic disorder and guanidinoacetate methyltransferase deficiency. Orthologous to human GAMT (guanidinoacetate N-methyltransferase). PHENOTYPE: Homozygous null mice display increased postnatal lethality; reduced body weight, muscle tension, and creatine concentrations; infertility with impaired spermatogenesis. [provided by MGI curators] |