人 RPGRIP1L (NM_001127897) cDNA克隆

Accession: NM_001127897
基因名称: RPGRIP1L
基因别名: FTM; MKS5; CORS3; JBTS7; NPHP8
基因描述: Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 2, mRNA.
种属: Human
CDS区长度: 3708 (查看编码区序列)
翻译后氨基酸长度: 1235 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
产品编号 产品名称 载体 规格 价格
G140526 人 RPGRIP1L (NM_001127897) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]