人 RPGRIP1L (NM_015272) cDNA克隆

Accession: NM_015272
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 1, mRNA.
种属: Human
CDS区长度: 3948 (查看编码区序列)
翻译后氨基酸长度: 1315 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
产品编号 产品名称 载体 规格 价格
G140527 人 RPGRIP1L (NM_015272) 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]