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This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
[中文简述(自动翻译):]  该基因被认为编码GDP甘露糖焦磷酸化酶。所编码的蛋白质催化甘露糖-1-磷酸和GTP与GDP甘露糖,涉及生产N-连接的寡糖的反应的转化率。编码不同同种型的可变剪接转录物变体已有描述。 [由RefSeq的,2009年1月提供]
GMPPB基因(以及对应的蛋白质)的细胞分布位置:
GMPPB基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 | 0.36 | 1 | 5 | CLINVAR_ORPHANET_UNIPROT |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | 0.24 | 1 | 3 | CLINVAR_UNIPROT |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | 0.24 | 1 | 3 | CLINVAR_UNIPROT |
Muscle eye brain disease | 0.12 | 0 | 0 | ORPHANET |
Crohn Disease | 0.002367032 | 1 | 0 | GAD |
Muscular Dystrophies, Limb-Girdle | 0.000814326 | 3 | 0 | BeFree |
Epilepsy, Generalized | 0.000271442 | 1 | 0 | BeFree |
Muscular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Congenital muscular dystrophy (disorder) | 0.000271442 | 1 | 0 | BeFree |
Myasthenic Syndromes, Congenital | 0.000271442 | 1 | 0 | BeFree |
alpha-Dystroglycanopathies | 0.000271442 | 1 | 0 | BeFree |
Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
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