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This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的I型(酸性)细胞角蛋白家族,属于中间丝(IF)蛋白的超家族中的一员。角蛋白是形成中间丝杂聚结构蛋白。这些细丝,与肌动蛋白微丝和微管一起构成上皮细胞的细胞骨架。在这种基因突变与表皮角化过度有关。该基因位于角蛋白家族成员的染色体17q21上群集内。 [由RefSeq的,2008年7月提供]
KRT10基因(以及对应的蛋白质)的细胞分布位置:
KRT10基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hyperkeratosis, Epidermolytic | 0.496849259 | 45 | 10 | BeFree_CLINVAR_CTD_human_LHGDN_ORPHANET_UNIPROT |
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis | 0.360814326 | 3 | 1 | BeFree_CTD_human_ORPHANET_UNIPROT |
Congenital reticular ichthyosiform erythroderma | 0.241085767 | 4 | 0 | BeFree_CTD_human_ORPHANET |
Squamous cell carcinoma | 0.126263026 | 6 | 0 | BeFree_CTD_human_LHGDN |
Contact Dermatitis | 0.12 | 1 | 0 | CTD_human |
Skin Neoplasms | 0.12 | 1 | 0 | CTD_human |
Arsenic Poisoning | 0.12 | 1 | 0 | CTD_human |
Erythrokeratoderma, Reticular | 0.12 | 0 | 2 | CLINVAR |
Epidermolytic palmoplantar keratoderma of Vorner | 0.008143256 | 30 | 2 | BeFree |
Lyme Disease | 0.00272435 | 1 | 0 | LHGDN |
Teratoma | 0.00272435 | 1 | 0 | LHGDN |
Liver carcinoma | 0.00272435 | 1 | 0 | LHGDN |
Palmoplantar Keratosis | 0.001628651 | 6 | 0 | BeFree |
Dermatologic disorders | 0.001628651 | 6 | 1 | BeFree |
Hyperkeratosis | 0.001357209 | 5 | 0 | BeFree |
Skin Diseases, Genetic | 0.000814326 | 3 | 0 | BeFree |
Exfoliative dermatitis | 0.000542884 | 2 | 0 | BeFree |
Epidermolysis Bullosa Simplex | 0.000542884 | 2 | 0 | BeFree |
NEVUS, EPIDERMAL (disorder) | 0.000542884 | 2 | 0 | BeFree |
Bloom Syndrome | 0.000271442 | 1 | 0 | BeFree |
Dermoid Cyst | 0.000271442 | 1 | 0 | BeFree |
Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Ichthyoses | 0.000271442 | 1 | 0 | BeFree |
Congenital ichthyosis | 0.000271442 | 1 | 0 | BeFree |
Keratoderma, Palmoplantar, Diffuse | 0.000271442 | 1 | 0 | BeFree |
Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Penile warts | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Spots on skin | 0.000271442 | 1 | 0 | BeFree |
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