Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity
I Yanatori, Y Yasui, K Miura, F Kishi - Blood Cells, Molecules, and Diseases, 2012 - Elsevier
The feline leukemia virus subgroup C receptor 1 (FLVCR1) is a heme exporter that
maintains the intracellular heme concentration. FLVCR1 was previously assumed to be
involved in Diamond–Blackfan anemia, and it was recently reported that mutations in the
FLVCR1 gene are found in patients with posterior column ataxia and retinitis pigmentosa
(PCARP). Four mutations in FLVCR1 (Asn121Asp, Cys192Arg, Ala241Thr, and Gly493Arg)
are located within putative transmembrane domains; however, the effects of FLVCR1 …
maintains the intracellular heme concentration. FLVCR1 was previously assumed to be
involved in Diamond–Blackfan anemia, and it was recently reported that mutations in the
FLVCR1 gene are found in patients with posterior column ataxia and retinitis pigmentosa
(PCARP). Four mutations in FLVCR1 (Asn121Asp, Cys192Arg, Ala241Thr, and Gly493Arg)
are located within putative transmembrane domains; however, the effects of FLVCR1 …
