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The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是发起和调节的N-乙酰神经氨酸(的NeuAc),唾液酸的前体的生物合成的双功能酶。它是在唾液酸生物合成途径中的限速酶。细胞表面分子的唾液酸修饰是它们在许多生物过程,包括细胞粘附和信号转导功能的关键。细胞表面分子的差分唾液酸化还参与了致瘤和恶性细胞的转移行为。在这种基因突变与sialuria,常染色体隐性遗传包涵体肌病,和野中肌病相关联。在这个成绩单基因导致选择性剪接变异体的编码不同的亚型。 [由RefSeq的,2008年7月提供]
GNE基因(以及对应的蛋白质)的细胞分布位置:
GNE基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
NONAKA MYOPATHY | 0.496286512 | 60 | 14 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Sialuria | 0.361357209 | 6 | 3 | BeFree_CLINVAR_CTD_human_UNIPROT |
Inclusion Body Myopathy, Autosomal Recessive | 0.361357209 | 12 | 12 | BeFree_CLINVAR_CTD_human_UNIPROT |
Inclusion Body Myositis (disorder) | 0.123724241 | 7 | 0 | BeFree_CTD_human_GAD |
Sialuria, French type | 0.12 | 0 | 0 | ORPHANET |
Myopathy | 0.023946474 | 33 | 1 | BeFree_LHGDN |
Distal Muscular Dystrophies | 0.014621642 | 8 | 0 | BeFree_GAD_LHGDN |
Osteitis Deformans | 0.00272435 | 1 | 0 | LHGDN |
Dementia | 0.00272435 | 1 | 0 | LHGDN |
Neuromuscular Diseases | 0.001628651 | 6 | 0 | BeFree |
Muscular Atrophy | 0.001357209 | 5 | 0 | BeFree |
Sialic Acid Storage Disease, Finnish Type (disorder) | 0.001357209 | 5 | 1 | BeFree |
Paresis | 0.000814326 | 3 | 0 | BeFree |
Muscle Weakness | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Vacuolar myopathy | 0.000542884 | 2 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Meningococcal meningitis | 0.000271442 | 1 | 0 | BeFree |
Myositis | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pick Disease of the Brain | 0.000271442 | 1 | 0 | BeFree |
Renal glomerular disease | 0.000271442 | 1 | 0 | BeFree |
Congenital thrombocytopenia | 0.000271442 | 1 | 0 | BeFree |
Frontotemporal dementia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Proximal myopathy | 0.000271442 | 1 | 0 | BeFree |
Inclusion Body Myopathy, Sporadic | 0.000271442 | 1 | 0 | BeFree |
Respiratory Failure | 0.000271442 | 1 | 0 | BeFree |
Abnormal breathing | 0.000271442 | 1 | 0 | BeFree |
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