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The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]
[中文简述(自动翻译):]  由该基因编码的蛋白质是属于MAL家族蛋白脂质的高度疏水整合膜蛋白。该蛋白质已被定位于T细胞的内质网并在T细胞信号转导的候选连接蛋白。此外,此蛋白脂质是定位于细胞的紧凑髓鞘的神经系统和在髓磷脂生物合成和/或功能有牵连。该蛋白在形成,稳定和鞘糖脂富集膜微维持的作用。下调该基因的已与多种人类上皮恶性肿瘤相关联。选择性剪接生产四种转录变体,其彼此通过[通过的RefSeq,2012年5月提供]的存在或不存在可变剪接的外显子2和3的变化
MAL基因(以及对应的蛋白质)的细胞分布位置:
MAL基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Squamous cell carcinoma | 0.123267234 | 3 | 0 | BeFree_CTD_human_LHGDN |
Mammary Neoplasms | 0.12272435 | 1 | 0 | CTD_human_LHGDN |
Head and Neck Neoplasms | 0.12 | 1 | 0 | CTD_human |
Rheumatoid Arthritis | 0.005091382 | 2 | 0 | GAD_LHGDN |
Adenoma | 0.00272435 | 1 | 0 | LHGDN |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Stomach Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Epithelial ovarian cancer | 0.002638474 | 2 | 0 | BeFree_GAD |
HIV Infections | 0.001628651 | 6 | 0 | BeFree |
Acute Megakaryocytic Leukemias | 0.001357209 | 5 | 0 | BeFree |
Carcinogenesis | 0.001357209 | 5 | 0 | BeFree |
Malignant tumor of cervix | 0.001085767 | 4 | 0 | BeFree |
Mediastinal (Thymic) Large B-Cell Lymphoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
Esophageal carcinoma | 0.000814326 | 3 | 0 | BeFree |
Cervical Intraepithelial Neoplasia | 0.000814326 | 3 | 0 | BeFree |
Cervix carcinoma | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
Cervix Diseases | 0.000542884 | 2 | 0 | BeFree |
Down Syndrome | 0.000542884 | 2 | 0 | BeFree |
Esophageal Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
Malaria | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
Cervical intraepithelial neoplasia grade 2 | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000542884 | 2 | 0 | BeFree |
Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000542884 | 2 | 0 | BeFree |
Heavy Chain Disease | 0.000271442 | 1 | 0 | BeFree |
Hodgkin Disease | 0.000271442 | 1 | 0 | BeFree |
Keloid | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Trisomy | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gastrointestinal tract | 0.000271442 | 1 | 0 | BeFree |
Plasmodium ovale infection | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Classical Hodgkin's Lymphoma | 0.000271442 | 1 | 0 | BeFree |
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