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Article

Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.

Blood cells, molecules & diseases - 15 Jun 2012

Yanatori Izumi, Yasui Yumiko, Miura Koshiro, Kishi Fumio

Abstract excerpt

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...

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Share to Biological Transport, Active
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22483575
DOI: 10.1016/j.bcmd.2012.03.004

Genes

FLVCR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.PMID 22483575Read ↗

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Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.Semantic proximity Read ↗

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