Seipin: a mysterious protein
Seipin: a mysterious protein
复制标题
DOI：
10.1016/j.molmed.2004.07.009
复制
发表时间：
2004-09-01
影响因子：
13.6
通讯作者：
Garg, A
中科院分区：
文献类型：
--
作者：
Agarwal, AK;Garg, A
2001年，在染色体11q13上发现了常染色体隐性遗传性先天性全身性脂肪营养不良基因，并报道了一个新基因的突变，命名为Berardinelli-Seip先天性脂肪营养不良症2(BSCL2)。今年早些时候，在常染色体显性遗传性远端遗传性运动神经病和Silver综合征中报道了BSCL2基因杂合性突变，仅限于N-X-S/T基序，这两种疾病的表型与脂肪营养不良明显不同。BSCL2编码Seipin，一种定位于内质网的跨膜蛋白。有人认为它与Midasin同源，Midasin是一种含有AAA(与各种细胞活动相关的ATPase)结构域的核蛋白，参与RNA运输，可能会为Seipin的突变形式如何导致两种临床上不同的综合征提供一些线索。
In 2001, a locus for autosomal-recessive congenital generalized lipodystrophy was identified on chromosome 11q13 and mutations in a novel gene named Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) were reported. Earlier this year, heterozygous mutations in the BSCL2 gene, restricted to the N-glycosylation (N-X-S/T) motif, were reported in autosomal-dominant distal hereditary motor neuropathy and Silver syndrome, which are disorders with distinctly different phenotypes from lipodystrophy. BSCL2 encodes seipin, a transmembrane protein that is localized to the endoplasmic reticulum. It is proposed that its homology to midasin, an AAA (ATPases associated with various cellular activities) domain-containing nuclear protein that is involved in RNA transport, might yield some clues as to how mutant forms of seipin cause two clinically distinct syndromes.