| Primary Identifier | MGI:98504 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 21405 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; identical protein binding activity; and protein dimerization activity. Involved in several processes, including D-glucose transmembrane transport; glucose homeostasis; and positive regulation of DNA-templated transcription. Acts upstream of or within several processes, including embryonic morphogenesis; monocarboxylic acid biosynthetic process; and monocarboxylic acid transport. Located in cytoplasm; photoreceptor outer segment; and pronucleus. Part of transcription regulator complex. Is expressed in several structures, including extraembryonic component; genitourinary system; gut; septum transversum hepatic component; and spleen. Used to study maturity-onset diabetes of the young type 3; phenylketonuria; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); cerebral infarction; glucose metabolism disease (multiple); liver disease (multiple); and renal cell carcinoma. Orthologous to human HNF1A (HNF1 homeobox A). PHENOTYPE: Most homozygous null mutants die at 3-6 weeks from progressive wasting syndrome, liver and renal dysfunction and type II diabetes. Mutants have little or no phenylalanine hydroxylase, albumin, alpha 1-antitrypsin and secreted insulin. [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
