Primary Identifier | MGI:1277968 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 19285 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables rRNA primary transcript binding activity. Involved in DNA-templated transcription; positive regulation of cell motility; and protein secretion. Located in caveola; endoplasmic reticulum; and nucleus. Is expressed in several structures, including central nervous system; genitourinary system; head mesenchyme; and sensory organ. Used to study congenital generalized lipodystrophy type 4 and pulmonary hypertension. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 4. Orthologous to human CAVIN1 (caveolae associated protein 1). PHENOTYPE: Mice homozygous for a null allele exhibit the absence of calveolae, dyslipidemia, and glucose intolerance, pulmonary arterial hypertension, and urinary bladder abnormalities. [provided by MGI curators] |