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This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
[中文简述(自动翻译):]  该基因编码的NEDD4家族HECT结构域E3泛素连接酶的一个成员。从E2 HECT域的E3泛素连接酶转移泛素泛素结合酶蛋白底物,从而为溶酶体降解针对特定的蛋白质。所编码的蛋白在多种细胞过程,包括红细胞和淋巴细胞分化和免疫反应的调节作用。在这个基因的突变是综合征多系统自身免疫疾病的原因。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的,2012年3月提供]
ITCH基因(以及对应的蛋白质)的细胞分布位置:
ITCH基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | 0.36 | 0 | 1 | CLINVAR_CTD_human_ORPHANET |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Rheumatoid Arthritis | 0.00272435 | 1 | 0 | LHGDN |
Dermatitis, Atopic | 0.00272435 | 1 | 0 | LHGDN |
Thyroid Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Coxsackievirus Infections | 0.000271442 | 1 | 0 | BeFree |
Ectodermal Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Gaucher Disease | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Mitral Valve Stenosis | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Anaplastic thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Non-alcoholic Fatty Liver Disease | 0.000271442 | 1 | 0 | BeFree |
Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Papillary microcarcinoma | 0.000271442 | 1 | 0 | BeFree |
Inflammatory disorder | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma Multiforme | 0.000271442 | 1 | 0 | BeFree |
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