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Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  固醇-C4- mehtyl氧化酶样蛋白质是根据它的相似性的酵母ERG25蛋白被分离。它包含了一组公认的金属结合贵气相似,在一个家庭的膜去饱和酶羟化酶的看到。该蛋白质定位于内质网膜,并且据信在胆固醇生物合成起作用。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的,2008年7月提供]
MSMO1基因(以及对应的蛋白质)的细胞分布位置:
MSMO1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Cataract | 0.000271442 | 1 | 0 | BeFree |
Dyslipidemias | 0.000271442 | 1 | 0 | BeFree |
Psoriasiform eczema | 0.000271442 | 1 | 0 | BeFree |
Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
Bilateral cataracts (disorder) | 0.000271442 | 1 | 0 | BeFree |
CK SYNDROME | 0.000271442 | 1 | 0 | BeFree |
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