人 LZTFL1 (NM_001276379) cDNA克隆

基本信息

Accession: NM_001276379
基因名称: LZTFL1
基因别名: BBS17
基因描述: Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 771 (查看编码区序列)
翻译后氨基酸长度: 256 (查看氨基酸序列)
Transcript Variant: This variant (3) contains a distinct 5' UTR, has multiple coding region differences, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (3) is shorter and has distinct N- and C-termini, compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G109305 人 LZTFL1 (NM_001276379) 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 LZTFL1 (NM_020347) cDNA克隆 transcript variant 1
人 LZTFL1 (NM_001276378) cDNA克隆 transcript variant 2
人 LZTFL1 (NM_001276379) cDNA克隆 transcript variant 3

基因简介

This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013]

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