人 AP4B1 (NM_001253853) cDNA克隆

基本信息

Accession: NM_001253853
基因名称: AP4B1
基因别名: CPSQ5; SPG47; BETA-4
基因描述: Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1923 (查看编码区序列)
翻译后氨基酸长度: 640 (查看氨基酸序列)
Transcript Variant: This variant (3) uses an alternate acceptor splice site at an internal exon compared to variant 1. This results in translation initiation from an in-frame downstream start site, and an isoform (2) with a shorter N-terminus compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G112764 人 AP4B1 (NM_001253853) 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 AP4B1 (NM_006594) cDNA克隆 transcript variant 1
人 AP4B1 (NM_001253852) cDNA克隆 transcript variant 2
人 AP4B1 (NM_001253853) cDNA克隆 transcript variant 3

基因简介

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

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