Heme and FLVCR-related transporter families SLC48 and SLC49.
Heme and FLVCR-related transporter families SLC48 and SLC49.
复制标题
DOI：
10.1016/j.mam.2012.07.013
复制
发表时间：
2013-04
影响因子：
10.6
通讯作者：
Quigley, John G.
中科院分区：
文献类型：
--
作者：
Khan, Anwar A.;Quigley, John G.
血红素对于多种细胞过程至关重要，但是过量的细胞内血红素可能导致氧化应激和膜损伤。猫白血病病毒亚组受体C受体（FLVCR1）是SLC49的4个寄生虫基因家族的成员，是细胞表面血红素出口剂，对于促红细胞生成和全身铁稳态必不可少。 FLVCR1功能的破坏阻碍了红细胞祖细胞的发展，这可能是由于血红素毒性引起的。罕见的神经退行性疾病的患者注意到SLC49A1编码FLVCR1的突变：具有色素性视网膜炎的后柱共济失调。 FLVCR2与FLVCR1高度同源，并且可能是细胞血红素进口商。 SLC49A2ENCODING FLVCR2的突变在Fowler综合征中观察到，这是一种罕见的大脑增生性血管疾病。 SLC49家族MFSD7和DIRC2（由SLC49A3和SLC49A4基因编码）的其余成员的功能尚不清楚，尽管后者与遗传性肾脏癌有关。 SLC48家族的唯一成员SLC48A1（血红素反应性基因-1，HRG-1）与内体相关，并且似乎将血红素从内体转运到细胞质中。
Heme is critical for a variety of cellular processes, but excess intracellular heme may result in oxidative stress and membrane injury. Feline leukemia virus subgroup C receptor (FLVCR1), a member of the SLC49 family of 4 paralogous genes, is a cell surface heme exporter, essential for erythropoiesis and systemic iron homeostasis. Disruption of FLVCR1 function blocks development of erythroid progenitors, likely due to heme toxicity. Mutations of SLC49A1 encoding FLVCR1 are noted in patients with a rare neurodegenerative disorder: posterior column ataxia with retinitis pigmentosa. FLVCR2 is highly homologous to FLVCR1 and may function as a cellular heme importer. Mutations of SLC49A2encoding FLVCR2 are observed in Fowler syndrome, a rare proliferative vascular disorder of the brain. The functions of the remaining members of the SLC49 family, MFSD7 and DIRC2 (encoded by the SLC49A3and SLC49A4 genes), are unknown, although the latter is implicated in hereditary renal carcinomas. SLC48A1 (Heme responsive gene-1, HRG-1), the sole member of the SLC48 family, is associated with the endosome and appears to transport heme from the endosome into the cytosol.
登录
查看更多内容
影响因子：
--
作者：
Chiabrando D;Tolosano E
通讯作者：
Tolosano E
影响因子：
1.7
作者：
Da Costa, L.;Moniz, H.;Simansour, M.;Tchernia, G.;Mohandas, N.;Leblanc, T.
通讯作者：
Leblanc, T.
影响因子：
30.8
作者：
Fleming, MD;Trenor, CC;Andrews, NC
通讯作者：
Andrews, NC
影响因子：
3.5
作者：
Bodmer, D;Eleveld, M;van Kessel, AG
通讯作者：
van Kessel, AG
影响因子：
3.7
作者：
Brasier, G;Tikellis, C;Wookey, PJ
通讯作者：
Wookey, PJ