人 COL11A1 (NM_001854) cDNA克隆

Accession: NM_001854
基因名称: COL11A1
基因别名: STL2; COLL6; CO11A1
基因描述: Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant A, mRNA.
种属: Human
CDS区长度: 5421 (查看编码区序列)
翻译后氨基酸长度: 1806 (查看氨基酸序列)
Transcript Variant: This variant (A) utilizes alternate exon 6, designated exon 6A. The encoded isoform (A) has a 39 aa region specified by exon 6A, that differs from the corresponding 51 aa region encoded by exon 6B in isoform B.
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G124649 人 COL11A1 (NM_001854) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]