Primary Identifier | MGI:1351634 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 27421 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ABC-type transporter activity; ATP binding activity; and ATP hydrolysis activity. Involved in several processes, including inhibition of non-skeletal tissue mineralization; inorganic diphosphate transport; and intracellular phosphate ion homeostasis. Located in basolateral plasma membrane. Is expressed in several structures, including bladder; blood vessel; epidermis; epithelium; and liver. Used to study pseudoxanthoma elasticum. Human ortholog(s) of this gene implicated in arterial calcification of infancy; coronary artery disease; and pseudoxanthoma elasticum. Orthologous to human ABCC6 (ATP binding cassette subfamily C member 6). PHENOTYPE: Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis. [provided by MGI curators] |