人 HPS5 (NM_181507) cDNA克隆

Accession: NM_181507
基因名称: HPS5
基因别名: AIBP63
基因描述: Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.
种属: Human
CDS区长度: 3390 (查看编码区序列)
翻译后氨基酸长度: 1129 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript, and encodes the longer isoform (a).
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G118288 人 HPS5 (NM_181507) 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. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]