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Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
[中文简述(自动翻译):]  适配器蛋白复合物1在位于高尔基复合体,在那里它介导网格蛋白的至膜既招募和跨膜受体的胞质尾部内分选信号的识别涂覆囊泡的胞质面找到。这种复杂的是两个大,一个媒体,一个小adaptin亚基组成的异四聚体。由该基因编码的蛋白质可作为这种复杂的小亚基,并且是adaptin蛋白家族的一个成员。已发现该基因编码不同亚型抄本变形。 [由RefSeq的,2013年1月提供]
AP1S2基因(以及对应的蛋白质)的细胞分布位置:
AP1S2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES | 0.440271442 | 3 | 6 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET |
Mental Retardation, X-Linked | 0.001085767 | 4 | 0 | BeFree |
Mental Retardation | 0.000542884 | 2 | 0 | BeFree |
Muscle hypotonia | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Dandy-Walker Syndrome | 0.000271442 | 1 | 0 | BeFree |
Hydrocephalus | 0.000271442 | 1 | 0 | BeFree |
Seizures | 0.000271442 | 1 | 0 | BeFree |
Choreoathetosis | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Congenital anomaly of face | 0.000271442 | 1 | 0 | BeFree |
Basal ganglia calcification | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
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