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Positive Samples: A375, HepG2, K-562
Immunogen sequence: IVPGVQAAYE SCEQKELECE GGQRERPQNQ QPHRAQRSPQ QQPSRLHRPQ NQEPQSQPTE SLYYDYEPPY YDVMTTGTTP DYQDPTPGEE EEILESSLLP PLEEEQTDLQ VPPTADRFQA EEYGEGGTDP PEGPYDYTYG YGDDYREETE LGPALSAETA HSGAAAHGPR G
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Collagen alpha-2(XI) chain; collagen, type XI, alpha 2; DAQB-79P13.8; HGNC:2187; pro-a2 chain of collagen type XI
基因别名: COL11A2; DFNA13; DFNB53; FBCG2; HKE5; PARP; STL3
UniProt ID: (Human) P13942
Entrez Gene ID: (Human) 1302