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The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011]
[中文简述(自动翻译):]  由该基因编码的蛋白质是由钙传感器STIM1激活时钙库耗尽的膜钙通道亚基。这种类型的通道是钙流入T细胞的主要方式。这种基因缺陷与T细胞失活免疫功能紊乱的原因是由于钙进入缺陷类型1(IDTICED1)。 [由RefSeq的,2011年9月提供]
ORAI1基因(以及对应的蛋白质)的细胞分布位置:
ORAI1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 | 0.48 | 1 | 3 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Tubular Aggregate Myopathy | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
Hypertensive disease | 0.120271442 | 2 | 0 | BeFree_CTD_human |
MYOPATHY, TUBULAR AGGREGATE, 2 | 0.12 | 1 | 0 | UNIPROT |
Neoplasm Metastasis | 0.003267234 | 2 | 0 | BeFree_LHGDN |
HIV Infections | 0.001628651 | 6 | 0 | BeFree |
Malignant neoplasm of breast | 0.001357209 | 5 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.001357209 | 5 | 0 | BeFree |
Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Glioblastoma | 0.000814326 | 3 | 0 | BeFree |
melanoma | 0.000814326 | 3 | 0 | BeFree |
Immunologic Deficiency Syndromes | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Nephrolithiasis | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Glioblastoma Multiforme | 0.000542884 | 2 | 0 | BeFree |
Anhydrotic Ectodermal Dysplasias | 0.000542884 | 2 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Dermatitis, Atopic | 0.000271442 | 1 | 0 | BeFree |
Eczema | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Graft-vs-Host Disease | 0.000271442 | 1 | 0 | BeFree |
Lymphoproliferative Disorders | 0.000271442 | 1 | 0 | BeFree |
Mucocutaneous Lymph Node Syndrome | 0.000271442 | 1 | 0 | BeFree |
Muscle hypotonia | 0.000271442 | 1 | 0 | BeFree |
Muscular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Ankylosing spondylitis | 0.000271442 | 1 | 0 | BeFree |
Tuberous Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Virus Diseases | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Thromboembolisms | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
Breast adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Invasive Skin Melanoma | 0.000271442 | 1 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
Recurrent infections (sinusitis and bacterial pneumonia and meningitis) | 0.000271442 | 1 | 0 | BeFree |
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 | 0.000271442 | 1 | 0 | BeFree |
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