更多...
收起
The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [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。所述角蛋白是负责上皮细胞的结构完整性中间丝蛋白和被细分为细胞角蛋白和头发角蛋白。大多数类型的我角蛋白由被布置成对异型角蛋白链的酸性蛋白质。这种类型的我角蛋白配对与角蛋白4和非角质化分层上皮的基底层层表达。在此基因和角蛋白4突变与常染色体显性紊乱白色海绵痣相关联。 I型角蛋白聚集在染色体17q21.2的区域。在多个转录变异体本基因的结果的选择性剪接;然而,并非所有的变体已有描述。 [由RefSeq的,2008年7月提供]
KRT13基因(以及对应的蛋白质)的细胞分布位置:
KRT13基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Leukokeratosis, Hereditary Mucosal | 0.121900093 | 7 | 0 | BeFree_CTD_human |
Squamous cell carcinoma of esophagus | 0.120271442 | 2 | 0 | BeFree_CTD_human |
WHITE SPONGE NEVUS 2 | 0.12 | 4 | 0 | UNIPROT |
Adenocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
Squamous cell carcinoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of mouth | 0.000542884 | 2 | 0 | BeFree |
Lip and Oral Cavity Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Leukoplakia | 0.000271442 | 1 | 0 | BeFree |
Mixed Salivary Gland Tumor | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma Of Esophagus | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
CARCINOMA OF VULVA | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。