Primary Identifier | MGI:1919003 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 71753 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable serine-type endopeptidase activity. Involved in intracellular iron ion homeostasis; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within multicellular organismal-level iron ion homeostasis and negative regulation of BMP signaling pathway. Located in plasma membrane. Is expressed in several structures, including cerebral cortex; gut; hemolymphoid system gland; sensory organ; and uterus. Human ortholog(s) of this gene implicated in microcytic anemia. Orthologous to human TMPRSS6 (transmembrane serine protease 6). PHENOTYPE: Homozygosity for an inactivating mutation of this gene results in hair loss over the entire body except the face, microcytic anemia and female infertility, all reversible by dietary iron supplementation. [provided by MGI curators] |