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The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是角蛋白基因家族的一个成员。 II型角蛋白包括被布置成对简单和分层上皮组织分化过程中共同表达异型角蛋白链的碱性或中性的蛋白质。这种II型角蛋白是与家庭成员KRT10和在这些基因突变的表皮棘层和颗粒层中特异性表达已与大疱先天性鱼鳞癣红皮相关联。 II型角蛋白聚集在染色体12q12-Q13的一个区域。 [由RefSeq的,2008年7月提供]
KRT1基因(以及对应的蛋白质)的细胞分布位置:
KRT1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hyperkeratosis, Epidermolytic | 0.6527677 | 43 | 15 | BeFree_CLINVAR_CTD_human_LHGDN_MGD_ORPHANET_RGD_UNIPROT |
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis | 0.48 | 1 | 2 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Keratoderma, Palmoplantar, Epidermolytic | 0.361900093 | 7 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET |
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC | 0.360271442 | 2 | 1 | BeFree_CLINVAR_CTD_human_UNIPROT |
Ichthyosis hystrix, Curth Macklin type | 0.240271442 | 1 | 0 | BeFree_CTD_human_ORPHANET |
Epidermolytic palmoplantar keratoderma of Vorner | 0.127057489 | 26 | 0 | BeFree_ORPHANET |
Skin Neoplasms | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Congenital reticular ichthyosiform erythroderma | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Squamous cell carcinoma | 0.12 | 1 | 0 | CTD_human |
Ichthyosis hystrix of Curth-Macklin | 0.12 | 0 | 0 | ORPHANET |
Epidermolytic Hyperkeratosis, Late-Onset | 0.12 | 0 | 0 | CLINVAR |
Keratosis palmoplantaris striata 1 | 0.12 | 0 | 0 | CTD_human |
Keratosis palmoplantaris striata 3 | 0.12 | 0 | 0 | CTD_human |
Epidermolytic palmoplantar keratoderma Vorner type | 0.12 | 0 | 0 | ORPHANET |
Palmoplantar Keratosis | 0.003257302 | 12 | 1 | BeFree |
Hyperkeratosis | 0.001900093 | 7 | 0 | BeFree |
Keratoderma, Palmoplantar, Diffuse | 0.000814326 | 3 | 1 | BeFree |
Ichthyosis Bullosa of Siemens | 0.000814326 | 3 | 0 | BeFree |
Exfoliative dermatitis | 0.000542884 | 2 | 0 | BeFree |
Keratoderma | 0.000542884 | 2 | 0 | BeFree |
Dermatologic disorders | 0.000542884 | 2 | 0 | BeFree |
Skin Diseases, Genetic | 0.000542884 | 2 | 0 | BeFree |
Epidermolysis Bullosa Simplex | 0.000542884 | 2 | 0 | BeFree |
Ichthyosis hystrix | 0.000542884 | 2 | 1 | BeFree |
Skin Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Papilloma | 0.000271442 | 1 | 0 | BeFree |
Cataract | 0.000271442 | 1 | 0 | BeFree |
Epstein-Barr Virus Infections | 0.000271442 | 1 | 0 | BeFree |
Pachyonychia Congenita | 0.000271442 | 1 | 0 | BeFree |
Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
NEVUS, EPIDERMAL (disorder) | 0.000271442 | 1 | 0 | BeFree |
Epidermolysis bullosa simplex with mottled pigmentation | 0.000271442 | 1 | 1 | BeFree |
Bilateral cataracts (disorder) | 0.000271442 | 1 | 0 | BeFree |
ICHTHYOSIS EXFOLIATIVA | 0.000271442 | 1 | 0 | BeFree |
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