(Feline Leukemia Virus Subgroup C Cellular Receptor 1 (FLVCR1))
This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011].
Chiabrando, Marro, Mercurio, Giorgi, Petrillo, Vinchi, Fiorito, Fagoonee, Camporeale, Turco, Merlo, Silengo, Altruda, Pinton, Tolosano: "The mitochondrial heme exporter FLVCR1b mediates erythroid differentiation." in: The Journal of clinical investigation, Vol. 122, Issue 12, pp. 4569-79, (2012) (PubMed).
Alves, Costa, Sorgine, Nascimento-Silva, Teodosio, Bárcena, Castro-Faria-Neto, Bozza, Orfao, Oliveira, Maya-Monteiro: "Heme-oxygenases during erythropoiesis in K562 and human bone marrow cells." in: PLoS ONE, Vol. 6, Issue 7, pp. e21358, (2011) (PubMed).
Rey, Duffy, Brown, Kennedy, Dick, Dror, Tailor: "Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis." in: Haematologica, Vol. 93, Issue 11, pp. 1617-26, (2008) (PubMed).
Quigley, Yang, Worthington, Phillips, Sabo, Sabath, Berg, Sassa, Wood, Abkowitz: "Identification of a human heme exporter that is essential for erythropoiesis." in: Cell, Vol. 118, Issue 6, pp. 757-66, (2004) (PubMed).