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This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
[中文简述(自动翻译):]  该基因编码一个特定黑素细胞的I型跨膜糖蛋白。所编码的蛋白质富集在黑素,这是在黑素细胞的黑色素产生细胞器,并起着premelanosomes的结构组织的重要作用。这种蛋白质是参与生成,从第一阶段定义过渡到第二阶段的黑素体内部的基质纤维。这种蛋白质经受prosttranslational加工和修饰的复杂模式即该蛋白质的正常运作的关键。由蛋白水解胞外域脱落释放该蛋白质的分泌形式可以用作黑素瘤特异性血清标记。选择性剪接结果在多个抄本变形。 [由RefSeq的,2011年1月提供]
PMEL基因(以及对应的蛋白质)的细胞分布位置:
PMEL基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Asthma | 0.12 | 1 | 1 | GWASCAT |
melanoma | 0.033351131 | 79 | 0 | BeFree_GAD_LHGDN |
Cervix carcinoma | 0.002714419 | 10 | 0 | BeFree |
Low Grade Squamous Intraepithelial Neoplasia | 0.002714419 | 10 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.002714419 | 10 | 0 | BeFree |
High-Grade Squamous Intraepithelial Lesions | 0.002442977 | 9 | 0 | BeFree |
Albinism, Oculocutaneous | 0.002367032 | 1 | 0 | GAD |
Metastatic melanoma | 0.001900093 | 7 | 0 | BeFree |
Melanoma, B16 | 0.001357209 | 5 | 0 | BeFree |
Malignant tumor of cervix | 0.001357209 | 5 | 0 | BeFree |
Vitiligo | 0.000814326 | 3 | 0 | BeFree |
Squamous intraepithelial lesion | 0.000814326 | 3 | 0 | BeFree |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 0.000814326 | 3 | 0 | BeFree |
Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
Fowlpox | 0.000542884 | 2 | 0 | BeFree |
HIV Infections | 0.000542884 | 2 | 0 | BeFree |
leukemia | 0.000542884 | 2 | 0 | BeFree |
Multiple Myeloma | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
Hypopigmentation disorder | 0.000542884 | 2 | 0 | BeFree |
Angiomyolipoma | 0.000542884 | 2 | 0 | BeFree |
Coinfection | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Infiltrating Cervical Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Tumor Immunity | 0.000542884 | 2 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Alcoholic Intoxication, Chronic | 0.000271442 | 1 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Cervix Diseases | 0.000271442 | 1 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Disseminated Intravascular Coagulation | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Graves Disease | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Hypertension | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, T-Cell | 0.000271442 | 1 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Microphthalmos | 0.000271442 | 1 | 0 | BeFree |
Pallor | 0.000271442 | 1 | 0 | BeFree |
Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
Seizures | 0.000271442 | 1 | 0 | BeFree |
Tetanus | 0.000271442 | 1 | 0 | BeFree |
Thyroiditis | 0.000271442 | 1 | 0 | BeFree |
Tumor Lysis Syndrome | 0.000271442 | 1 | 0 | BeFree |
Hermanski-Pudlak Syndrome | 0.000271442 | 1 | 0 | BeFree |
Dysplastic Nevus | 0.000271442 | 1 | 0 | BeFree |
Neoplasm, Residual | 0.000271442 | 1 | 0 | BeFree |
Canarypox (disorder) | 0.000271442 | 1 | 0 | BeFree |
Hypothyroidism, Autoimmune | 0.000271442 | 1 | 0 | BeFree |
Disseminated Malignant Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Visual symptoms | 0.000271442 | 1 | 0 | BeFree |
Humoral immune defect | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
invasive cancer | 0.000271442 | 1 | 0 | BeFree |
Sentinel node (disorder) | 0.000271442 | 1 | 0 | BeFree |
Lymphangioleiomyomatosis | 0.000271442 | 1 | 0 | BeFree |
Sucrase-isomaltase deficiency, congenital | 0.000271442 | 1 | 0 | BeFree |
Perivascular Epithelioid Cell Neoplasms | 0.000271442 | 1 | 0 | BeFree |
MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.000271442 | 1 | 0 | BeFree |
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