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 (Feline Leukemia Virus Subgroup C Cellular Receptor 1) is a Protein Coding gene. Diseases associated with FLVCR1 include Ataxia, Posterior Column, With Retinitis Pigmentosa and Posterior Column Ataxia. Among its related pathways are Insulin receptor recycling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and heme transporter activity. An important paralog of this gene is FLVCR2.
UniProtKB/Swiss-Prot 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 may be required to protect developing erythroid cells from heme toxicity. Heme export also provides protection from heme or ferrous iron toxicities in liver and brain. Causes susceptibility to FeLV-C in vitro. Required during erythtopoiesis to maintain intracellular free heme balance since in proerythroblasts, heme synthesis intensifies and its accumulation is toxic for cells.
Isoform 2: Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation.