Primary Identifier | MGI:2145890 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 105722 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables monoatomic ion channel activity; phospholipid scramblase activity; and protein homodimerization activity. Involved in several processes, including bleb assembly; monoatomic ion transmembrane transport; and positive regulation of transport. Acts upstream of or within several processes, including bone mineralization involved in bone maturation; calcium activated phospholipid scrambling; and dendritic cell chemotaxis. Located in plasma membrane. Is active in cholinergic synapse and synaptic membrane. Is expressed in several structures, including alimentary system; embryo mesenchyme; nervous system; sensory organ; and skeletal system. Human ortholog(s) of this gene implicated in Scott syndrome; ankylosing spondylitis; and inflammatory bowel disease. Orthologous to human ANO6 (anoctamin 6). PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired platelet coagulation with increased bleeding time. Mice homozygous for a different knock out allele or gene trap exhibit decreased bone mineral deposition and skeletal abnormalities. [provided by MGI curators] |