| Primary Identifier | MGI:1203732 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 20502 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables thyroid hormone transmembrane transporter activity. Involved in thyroid hormone transport. Acts upstream of or within with a negative effect on thyroid hormone generation and thyroid-stimulating hormone secretion. Located in apical plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; cochlea; and limb. Used to study Allan-Herndon-Dudley syndrome. Human ortholog(s) of this gene implicated in Allan-Herndon-Dudley syndrome and intellectual disability. Orthologous to human SLC16A2 (solute carrier family 16 member 2). PHENOTYPE: Homo- and hemizygous inactivation of this gene leads to abnormal thyroid hormone metabolism with no apparent neurological phenotype. Males hemizygous for a knock-out allele also show altered deiodinase enzymatic activities, reduced serum cholesterol and increased serum alkaline phosphatase levels. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
