Primary Identifier | MGI:1917379 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 70129 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables thiamine pyrophosphate transmembrane transporter activity. Involved in thiamine pyrophosphate transmembrane transport. Predicted to be located in apical plasma membrane. Predicted to be active in plasma membrane. Is expressed in embryo. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 72. Orthologous to human SLC44A4 (solute carrier family 44 member 4). PHENOTYPE: Mice homozygous for a null mutation display decreased body weight, reduced colon length, and impaired intestinal thiamine pyrophosphate absorption. Mice homozygous for a second null allele display increased circulating bilirubin and glucose levels and decreased prepulse inhibition. [provided by MGI curators] |