COL3A1 collagen type III alpha 1 chain [ Homo sapiens (human) ]
来源标识:NCBI Gene (编号 1281
名称:COL3A1
全称:collagen type III alpha 1 chain
基因类型:protein coding
RefSeq 状态:REVIEWED
物种:Homo sapiens
别称:EDS4A; EDSVASC; PMGEDSV
总结:This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]
表达:Biased expression in gall bladder (RPKM 1491.0), placenta (RPKM 1173.3) and 12 other tissues
直系同源:mouse
基因大小:38374bp
外显子数量:51