Primary Identifier | MGI:1921765 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 68916 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N6-threonylcarbomyladenosine methylthiotransferase activity. Acts upstream of or within maintenance of translational fidelity and tRNA methylthiolation. Located in rough endoplasmic reticulum. Is expressed in olfactory epithelium and testis. Used to study type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in diabetes mellitus; diabetic retinopathy; gestational diabetes; and type 2 diabetes mellitus. Orthologous to human CDKAL1 (CDK5 regulatory subunit associated protein 1 like 1). PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired tRNALys modification. Mice homozygous for a gene trap allele exhibit altered glucose homeostasis and lipid accumulation at early stages when fed a high fat diet. [provided by MGI curators] |