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This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码脯氨酰-4-羟化酶,属于该蛋白二硫键异构酶家族高度丰富多功能酶的β亚基。作为四聚体由两个α和两个β亚基的当存在时,这种酶是参与在preprocollagen脯残基的羟基化。这种酶也包含催化二硫键的形成,断裂和重排2硫氧还蛋白结构域的二硫键异构酶。其他已知的功能包括其作为抑制以依赖于浓度的方式错误折叠的蛋白质的聚集的分子伴侣的能力,其结合甲状腺激素的能力,其在S-亚硝基硫醇结合的一氧化氮的流入和流出这两个作用,其函数作为微粒体甘油三酯转移蛋白复合物的亚单位。 [由RefSeq的,2008年7月提供]
P4HB基因(以及对应的蛋白质)的细胞分布位置:
P4HB基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cole Carpenter syndrome | 0.360271442 | 1 | 1 | BeFree_CLINVAR_ORPHANET_UNIPROT |
Osteoporosis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Prostatic Neoplasms | 0.12 | 1 | 0 | CTD_human |
Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
SPINOCEREBELLAR ATAXIA 17 | 0.12 | 1 | 0 | CTD_human |
Amyotrophic Lateral Sclerosis | 0.004353001 | 6 | 1 | BeFree_LHGDN |
HIV Infections | 0.002171535 | 8 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.001085767 | 4 | 0 | BeFree |
Rheumatoid Arthritis | 0.000814326 | 3 | 0 | BeFree |
Abetalipoproteinemia | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Diphtheria | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Neurodegenerative Disorders | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Leukemia, Large Granular Lymphocytic | 0.000542884 | 2 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Brain Ischemia | 0.000271442 | 1 | 0 | BeFree |
Dengue Fever | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Ischemia | 0.000271442 | 1 | 0 | BeFree |
Malaria | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Mucopolysaccharidoses | 0.000271442 | 1 | 0 | BeFree |
Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Sarcoidosis | 0.000271442 | 1 | 0 | BeFree |
Staphylococcal Infections | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
Virus Diseases | 0.000271442 | 1 | 0 | BeFree |
Hermanski-Pudlak Syndrome | 0.000271442 | 1 | 0 | BeFree |
Gangliosidosis GM1 | 0.000271442 | 1 | 0 | BeFree |
Neurofibrillary degeneration (morphologic abnormality) | 0.000271442 | 1 | 0 | BeFree |
Prion Diseases | 0.000271442 | 1 | 0 | BeFree |
Ischemic cardiomyopathy | 0.000271442 | 1 | 0 | BeFree |
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | 0.000271442 | 1 | 0 | BeFree |
Pseudoachondroplasia | 0.000271442 | 1 | 0 | BeFree |
Hepatitis C, Chronic | 0.000271442 | 1 | 0 | BeFree |
Malignant Glioma | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Acute GVH disease | 0.000271442 | 1 | 0 | BeFree |
Vascular inflammations | 0.000271442 | 1 | 0 | BeFree |
Arthritis, Collagen-Induced | 0.000271442 | 1 | 0 | BeFree |
Invasive Ductal Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
AMYOTROPHIC LATERAL SCLEROSIS 1 | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Nonalcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
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