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This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [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,两个相同的α亚基和两个β亚基组成中胶原合成的关键酶的组分。所编码的蛋白质是几种不同类型的α亚基中的一个,并提供了活性酶的催化位点的主要部分。在胶原蛋白和相关蛋白,脯氨酰-4-羟化酶催化4-羟基脯氨酸即新合成的前胶原蛋白链的正确三维折叠必需的形成。编码不同同种型的可变剪接转录物变体已有描述。 [由RefSeq的,2008年7月提供]
P4HA2基因(以及对应的蛋白质)的细胞分布位置:
P4HA2基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Degenerative polyarthritis | 0.00272435 | 1 | 0 | LHGDN |
| Bronchiolitis, Viral | 0.002367032 | 1 | 0 | GAD |
| Crohn Disease | 0.002367032 | 1 | 0 | GAD |
| Respiratory Syncytial Virus Infections | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of ovary | 0.002367032 | 1 | 0 | GAD |
| Blood pressure finding | 0.002367032 | 1 | 1 | GAD |
| Systemic arterial pressure | 0.002367032 | 1 | 1 | GAD |
| Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
| Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Mammary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Disorder of skeletal system | 0.000271442 | 1 | 0 | BeFree |
| Severe myopia | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of mouth | 0.000271442 | 1 | 0 | BeFree |
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