人 BBS12 (NM_001178007) cDNA克隆

Accession: NM_001178007
基因名称: BBS12
基因别名: C4orf24
基因描述: Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.
种属: Human
CDS区长度: 2133 (查看编码区序列)
翻译后氨基酸长度: 710 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.
产品编号 产品名称 载体 规格 价格
G133094 人 BBS12 (NM_001178007) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]