更多...
收起
The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]
[中文简述(自动翻译):]  由该基因编码的蛋白质所需的脂肪酸的减少到脂肪醇,即所需的单酯和醚脂质的合成方法。 NADPH被要求在该反应的辅因子,和16-18个碳的饱和和不饱和脂肪酸是优选的底物。这是一个的过氧化物酶体膜蛋白,与研究表明N-末端包含位于过氧化物酶体的外侧的大的催化结构域,而C末端暴露于过氧化物酶的基质。研究表明,该蛋白质的调节是依赖于缩醛水平。在这种基因突变已与受严重智障,早发性癫痫,小头畸形,先天性白内障,生长迟缓,和痉挛(:25439727 PMID)的个人相关联。该基因的假基因位于[由RefSeq的,2015年1月提供] 13号染色体
FAR1基因(以及对应的蛋白质)的细胞分布位置:
FAR1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER | 0.12 | 1 | 0 | UNIPROT |
Muscle Spasticity | 0.000271442 | 1 | 0 | BeFree |
Cataract | 0.000271442 | 1 | 0 | BeFree |
Bilateral cataracts (disorder) | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。