Primary Identifier | MGI:892977 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 13521 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables solute:inorganic anion antiporter activity and sulfate transmembrane transporter activity. Involved in chondrocyte differentiation; chondrocyte proliferation; and sulfate transmembrane transport. Is active in plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skeleton. Used to study diastrophic dysplasia. Human ortholog(s) of this gene implicated in bone disease (multiple). Orthologous to human SLC26A2 (solute carrier family 26 member 2). PHENOTYPE: Mice homozygous for a knock-in allele exhibit premature death, stunted growth, joint contractures, and skeletal dysplasia including kyphosis, shorter osteoporotic long bones, aberrant chondrocyte size, delayed endochondral bone ossification, and impairedchondrocyte proliferation and sulfate uptake. [provided by MGI curators] |