人 AP3M1 (NM_207012) cDNA克隆

Accession: NM_207012
基因名称: AP3M1
基因描述: Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1257 (查看编码区序列)
翻译后氨基酸长度: 418 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.
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G117481 人 AP3M1 (NM_207012) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]