人 TTC8 (NM_144596) cDNA克隆

基本信息

Accession: NM_144596
基因名称: TTC8
基因别名: BBS8; RP51
基因描述: Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1548 (查看编码区序列)
翻译后氨基酸长度: 515 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A). Variants lacking the second exon of this transcript have been associated with nonsyndromic retinitis pigmentosa.

订购信息

产品编号 产品名称 载体 规格 价格
G112052 人 TTC8 (NM_144596) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 TTC8 (NM_144596) cDNA克隆 transcript variant 1
人 TTC8 (NM_198309) cDNA克隆 transcript variant 2
人 TTC8 (NM_198310) cDNA克隆 transcript variant 3

基因简介

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

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