Aliases for FLVCR1 Gene
External Ids for FLVCR1 Gene
Previous HGNC Symbols for FLVCR1 Gene
Previous GeneCards Identifiers for FLVCR1 Gene
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]
GeneCards Summary for FLVCR1 Gene
FLVCR1 (FLVCR Heme Transporter 1) is a Protein Coding gene. Diseases associated with FLVCR1 include Posterior Column Ataxia With Retinitis Pigmentosa and Retinitis Pigmentosa. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include transporter activity and heme transporter activity. An important paralog of this gene is FLVCR2.
UniProtKB/Swiss-Prot Summary for FLVCR1 Gene
[Isoform 1]: Heme transporter that exports cytoplasmic heme. It can also export coproporphyrin and protoporphyrin IX, which are both intermediate products in the heme biosynthetic pathway. Does not export bilirubin. Heme export depends on the presence of HPX and is required to maintain intracellular free heme balance, protecting cells from heme toxicity. Heme export provides protection from heme or ferrous iron toxicities in liver, brain, sensory neurons and during erythtopoiesis, a process in which heme synthesis intensifies. Causes susceptibility to FeLV-C in vitro.
[Isoform 2]: Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation.