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This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]
[中文简述(自动翻译):]  此基因编码N-乙酰磷脂酰肌醇(GlcNAc的-PI)的合成所需要的蛋白质,在GPI锚定的生物合成途径的第一个中间产物。 GPI锚是许多血细胞和其用于锚定蛋白在细胞表面发现的糖脂。阵发性夜间血红蛋白尿,所获取的血液学病症,已经显示出在这个基因的突变造成的。替代剪接变体已被表征。一个相关的假基因位于[由RefSeq的,2010年6月提供] 12号染色体
PIGA基因(以及对应的蛋白质)的细胞分布位置:
PIGA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 2 | 0.36 | 2 | 7 | CLINVAR_ORPHANET_UNIPROT |
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 | 0.24 | 4 | 10 | CLINVAR_UNIPROT |
Paroxysmal nocturnal hemoglobinuria | 0.154201676 | 126 | 1 | BeFree_ORPHANET |
Hemoglobinuria, Paroxysmal | 0.1254487 | 4 | 0 | CTD_human_LHGDN |
West Syndrome | 0.12 | 0 | 0 | ORPHANET |
Aplastic Anemia | 0.008434561 | 12 | 0 | BeFree_LHGDN |
Intravascular hemolysis | 0.001357209 | 5 | 0 | BeFree |
Hematological Disease | 0.001085767 | 4 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
Congenital Abnormality | 0.000542884 | 2 | 0 | BeFree |
Anemia, Hemolytic, Acquired | 0.000542884 | 2 | 0 | BeFree |
leukemia | 0.000542884 | 2 | 0 | BeFree |
Pancytopenia | 0.000542884 | 2 | 0 | BeFree |
Protein Deficiency | 0.000542884 | 2 | 0 | BeFree |
Hemolytic disorder | 0.000542884 | 2 | 0 | BeFree |
CD59 Deficiency | 0.000542884 | 2 | 0 | BeFree |
Atypical Hemolytic Uremic Syndrome | 0.000542884 | 2 | 0 | BeFree |
Anemia, Hemolytic | 0.000271442 | 1 | 0 | BeFree |
Burkitt Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Dental caries | 0.000271442 | 1 | 0 | BeFree |
Dystonia | 0.000271442 | 1 | 0 | BeFree |
Epilepsy | 0.000271442 | 1 | 0 | BeFree |
Absence Epilepsy | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
Plasmacytoma | 0.000271442 | 1 | 0 | BeFree |
Miller Dieker syndrome | 0.000271442 | 1 | 0 | BeFree |
Early myoclonic encephalopathy | 0.000271442 | 1 | 0 | BeFree |
Iron Overload | 0.000271442 | 1 | 0 | BeFree |
Obesity, Abdominal | 0.000271442 | 1 | 0 | BeFree |
Caries (morphologic abnormality) | 0.000271442 | 1 | 0 | BeFree |
Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
Epileptic encephalopathy | 0.000271442 | 1 | 0 | BeFree |
Congenital malformation syndrome | 0.000271442 | 1 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
Plasma Cell Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Thrombotic Microangiopathies | 0.000271442 | 1 | 0 | BeFree |
Bone Marrow failure syndromes | 0.000271442 | 1 | 0 | BeFree |
Myeloid neoplasm | 0.000271442 | 1 | 0 | BeFree |
Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
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