人 AP4B1 (NM_001253852) cDNA克隆

Accession: NM_001253852
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 2, mRNA.
种属: Human
CDS区长度: 2220 (查看编码区序列)
翻译后氨基酸长度: 739 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' non-coding region compared to variant 1. Variants 1 and 2 encode the same isoform (1).
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G112763 人 AP4B1 (NM_001253852) cDNA克隆 pDONR223 2ug质粒 点击询价

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]