Primary Identifier | MGI:97799 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 19226 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables hormone activity. Involved in calcium ion homeostasis; magnesium ion homeostasis; and phosphate ion homeostasis. Acts upstream of or within several processes, including negative regulation of apoptotic process in bone marrow cell; positive regulation of cell population proliferation; and positive regulation of transcription by RNA polymerase II. Located in extracellular space. Is expressed in several structures, including branchial arch; foregut gland primordium; gut gland; and thymus. Human ortholog(s) of this gene implicated in several diseases, including chronic kidney disease; diabetes mellitus (multiple); familial isolated hypoparathyroidism; hyperphosphatemia; and secondary hyperparathyroidism. Orthologous to human PTH (parathyroid hormone). PHENOTYPE: Homozygotes for a targeted null mutation exhibit diminished cartilage mineralization, and reductions in angiopoietin-1, neovascularization, metaphyseal osteoblasts, and trabecular bone. [provided by MGI curators] |