The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010]
由该基因编码的蛋白质是一个胆碱脱氢酶定位于线粒体。在这种基因的变化可能会影响易感性胆碱缺乏。一些转录物变体已被发现对于此基因,但只有一个的全长性质已被表征为最新。 [由RefSeq的,2010年12月提供]
CHDH基因(以及对应的蛋白质)的细胞分布位置:
CHDH基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Mammary Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
Coronary heart disease | 0.004614512 | 17 | 8 | BeFree |
Malignant neoplasm of breast | 0.003181358 | 3 | 2 | BeFree_GAD |
Coronary Artery Disease | 0.002638474 | 1 | 1 | BeFree_GAD |
Choline Deficiency | 0.002638474 | 1 | 2 | BeFree_GAD |
Congenital Heart Defects | 0.002442977 | 9 | 1 | BeFree |
Coronary Arteriosclerosis | 0.002442977 | 9 | 0 | BeFree |
Cleft Lip | 0.002367032 | 1 | 0 | GAD |
Cleft Palate | 0.002367032 | 1 | 0 | GAD |
Cerebrovascular accident | 0.001900093 | 7 | 1 | BeFree |
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