人 TTC8 (NM_198309) cDNA克隆

基本信息

Accession: NM_198309
基因名称: TTC8
基因别名: BBS8; RP51
基因描述: Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1518 (查看编码区序列)
翻译后氨基酸长度: 505 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an in-frame exon, compared to variant 1, resulting in a shorter protein (isoform B), as compared to isoform A.

订购信息

产品编号 产品名称 载体 规格 价格
G112053 人 TTC8 (NM_198309) 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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