Primary Identifier | MGI:2179729 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 246228 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables microfibril binding activity and protein homodimerization activity. Acts upstream of or within behavioral response to pain; extracellular matrix organization; and protein homooligomerization. Located in basement membrane; extracellular region; and interstitial matrix. Is active in extracellular matrix. Is expressed in several structures, including adipose tissue; alimentary system; eye; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in autosomal recessive distal hereditary motor neuronopathy 7. Orthologous to human VWA1 (von Willebrand factor A domain containing 1). PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal motor coordination/balance, increased thermal nociceptive threshold, and altered peripheral nerve structure and function. [provided by MGI curators] |