Col5a1 collagen, type V, alpha 1 [ Mus musculus (house mouse) ] - Gene - Data resources

12831

Col5a1 collagen, type V, alpha 1 [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 12831)

Symbol: Col5a1

Full name: collagen, type V, alpha 1

Gene type: protein coding

RefSeq status: VALIDATED

Summary: An extracellular matrix structural constituent. Acts upstream of or within several processes, including circulatory system development; collagen fibril organization; and tendon development. Located in basement membrane. Part of collagen trimer. Is expressed in several structures, including embryo mesenchyme; extraembryonic component; genitourinary system; heart; and skeleton. Used to study Ehlers-Danlos syndrome classic type 1. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 1. Orthologous to human COL5A1 (collagen type V alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Broad expression in limb E14.5 (RPKM 82.9), bladder adult (RPKM 28.4) and 15 other tissues

Orthologs: human

Gene size: 153130bp

Exon count: 67