This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6.
应用类型
WB, IHC
免疫原
Synthesized peptide derived from the C-terminal region of human COL11A2. Location: 1180-1260aa.
来源宿主
Rabbit
反应性
该COL11A2 抗体 - C-末端区域的反应性请参考该产品的说明书
保存建议
Store at -20C. Avoid repeated freeze/thaw cycles.
其他
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