Primary Identifier | MGI:2152695 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 94216 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) An extracellular matrix structural constituent. Acts upstream of or within cellular response to amino acid stimulus; collagen-activated tyrosine kinase receptor signaling pathway; and extracellular matrix organization. Located in basement membrane. Part of collagen type IV trimer. Is expressed in several structures, including bone; meninges; oral region epithelium; sensory organ; and trunk. Human ortholog(s) of this gene implicated in X-linked deafness 6. Orthologous to human COL4A6 (collagen type IV alpha 6 chain). PHENOTYPE: Male mice hemizygous for a knock-out allele are viable, fertile and healthy with no apparent defects in the topology of neuromuscular junctions in the diaphragm muscle. [provided by MGI curators] |