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This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码具有FAD结合结构域和一个黄素氧还蛋白样结构域的内质网膜还原酶。该蛋白质结合2辅因子,FAD和FMN,允许它直接从NADPH提供电子到所有微粒P450酶。该基因突变与各种疾病,包括合并显然并P450C17缺乏P450C21,闭经和类固醇激素紊乱,先天性肾上腺皮质增生症和安特利 - 比克斯勒症候群有关。 [由RefSeq的,2008年7月提供]
POR基因(以及对应的蛋白质)的细胞分布位置:
POR基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Antley-Bixler Syndrome with Disordered Steroidogenesis | 0.360542884 | 4 | 10 | BeFree_CLINVAR_ORPHANET_UNIPROT |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | 0.24 | 2 | 0 | CTD_human_UNIPROT |
Congenital adrenal hyperplasia | 0.12617715 | 7 | 1 | BeFree_CTD_human_GAD_LHGDN |
Antley-Bixler Syndrome Phenotype | 0.12272435 | 4 | 0 | CTD_human_LHGDN |
Bladder Neoplasm | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Amenorrhea | 0.12 | 1 | 0 | CTD_human |
Neoplastic Cell Transformation | 0.12 | 1 | 0 | CTD_human |
Learning Disorders | 0.12 | 1 | 0 | CTD_human |
gliosarcoma | 0.12 | 1 | 0 | CTD_human |
Hypotension | 0.08 | 1 | 0 | RGD |
Craniosynostosis | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.003181358 | 3 | 0 | BeFree_GAD |
Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Autistic Disorder | 0.002367032 | 1 | 0 | GAD |
Bone Diseases | 0.002367032 | 1 | 0 | GAD |
Antley-Bixler Syndrome, Autosomal Dominant | 0.001085767 | 4 | 1 | BeFree |
HIV Infections | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Ambiguous Genitalia | 0.000542884 | 2 | 0 | BeFree |
Chronic active hepatitis | 0.000542884 | 2 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 3 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Hypercholesterolemia, Familial | 0.000271442 | 1 | 0 | BeFree |
Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Adrenal Cortical Adenoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Large cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 3 | BeFree |
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