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The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是局部的粗面内质网的潴膜结合同二聚体酶。酶(辅因子铁和抗坏血酸)催化赖氨酰残基在胶原蛋白样肽的羟基化。所得hydroxylysyl基团是在胶原碳水化合物连接位点,因而是分子间交联的稳定性是至关重要的。有的患者埃勒斯 - 当洛综合征型VIB在赖氨酰羟化酶活性不足。 [由RefSeq的,2008年7月提供]
PLOD3基因(以及对应的蛋白质)的细胞分布位置:
PLOD3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Bone Fragility with Contractures, Arterial Rupture, and Deafness | 0.48 | 1 | 2 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Hypothyroidism | 0.08 | 1 | 0 | RGD |
Borderline Personality Disorder | 0.000271442 | 1 | 0 | BeFree |
Bronchopulmonary Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Epidermolysis Bullosa Simplex | 0.000271442 | 1 | 0 | BeFree |
gamma-Glutamyltransferase deficiency | 0.000271442 | 1 | 0 | BeFree |
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