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This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
[中文简述(自动翻译):]  此基因编码参与糖基(GPI) - 锚定的生物合成的蛋白质。该GPI锚是许多血细胞中发现糖脂和用于锚定蛋白到细胞表面。这种蛋白质是多亚基酶,GPI transamidase的一个基本组成部分。 GPI transamidase介导的GPI锚定在内质网中,通过催化完全组装的GPI单位转移到蛋白质。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的,2012年5月提供]
PIGT基因(以及对应的蛋白质)的细胞分布位置:
PIGT基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 | 0.360271442 | 2 | 3 | BeFree_CLINVAR_ORPHANET_UNIPROT |
Hemoglobinuria, Paroxysmal | 0.12 | 1 | 0 | CTD_human |
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 | 0.12 | 0 | 1 | CLINVAR |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Hypophosphatasia | 0.000271442 | 1 | 0 | BeFree |
Paroxysmal nocturnal hemoglobinuria | 0.000271442 | 1 | 0 | BeFree |
Encephalopathies | 0.000271442 | 1 | 0 | BeFree |
Congenital malformation syndrome | 0.000271442 | 1 | 0 | BeFree |
Dysmorphism | 0.000271442 | 1 | 0 | BeFree |
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