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This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的釉原蛋白家族细胞外基质蛋白中的一员。 Amelogenins是牙釉质发育过程中涉及的生物矿化。突变这个基因导致X连锁amelogenesis不全。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的,2008年7月提供]
AMELX基因(以及对应的蛋白质)的细胞分布位置:
AMELX基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Amelogenesis Imperfecta hypomaturation type | 0.12 | 0 | 0 | ORPHANET |
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 | 0.12 | 0 | 0 | CTD_human |
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth | 0.12 | 3 | 0 | UNIPROT |
Hypocalcemia | 0.08 | 1 | 0 | RGD |
Amelogenesis Imperfecta | 0.008977445 | 15 | 0 | BeFree_LHGDN |
Dental caries | 0.002909916 | 3 | 0 | BeFree_GAD |
Hematocrit level | 0.002367032 | 1 | 1 | GAD |
Hepatitis, Autoimmune | 0.001085767 | 4 | 0 | BeFree |
Hypercholesterolemia, Familial | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000814326 | 3 | 0 | BeFree |
Prostate carcinoma | 0.000814326 | 3 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
Xenograft Model | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Arthritis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Primary biliary cirrhosis | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
Seizures | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Chronic pain | 0.000271442 | 1 | 0 | BeFree |
Caries (morphologic abnormality) | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
Tumor Angiogenesis | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
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