人 AP3B1 (NM_001271769) cDNA克隆

Accession: NM_001271769
基因名称: AP3B1
基因别名: PE; HPS; HPS2; ADTB3; ADTB3A
基因描述: Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 3138 (查看编码区序列)
翻译后氨基酸长度: 1045 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of the first exon compared to variant 1. This transcript initiates translation at an alternate start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
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G114038 人 AP3B1 (NM_001271769) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]