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. [pr... See more...

Aliases for FLVCR1 Gene

Aliases for FLVCR1 Gene

  • FLVCR Heme Transporter 1 2 3 5
  • FLVCR 2 3 4
  • Feline Leukemia Virus Subgroup C Receptor-Related Protein 1 3 4
  • Feline Leukemia Virus Subgroup C Cellular Receptor 1 2 3
  • SLC49A1 2 3
  • MFSD7B 2 3
  • PCA 2 3
  • Ataxia, Posterior Column 1, With Retinitis Pigmentosa 2
  • Feline Leukemia Virus Subgroup C Receptor 4
  • FLVCR1 5
  • HFLVCR 4
  • AXPC1 3
  • PCARP 3

External Ids for FLVCR1 Gene

Previous HGNC Symbols for FLVCR1 Gene

  • AXPC1

Previous GeneCards Identifiers for FLVCR1 Gene

  • GC01P211099
  • GC01P213031
  • GC01P183708

Summaries for FLVCR1 Gene

Entrez Gene Summary 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 Inherited Retinal Disorder. 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. 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.

Gene Wiki entry for FLVCR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FLVCR1 Gene

Genomics for FLVCR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FLVCR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J212856 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 652.1 +1.1 1126 6.4 SP1 HNRNPL CREB1 TEAD4 PRDM10 ZNF629 LEF1 IKZF1 ZNF692 POLR2A FLVCR1-DT FLVCR1 SPATA45 ANGEL2 TATDN3 RF00017-472 VASH2
GH01J212789 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 44.8 -66.7 -66678 4.4 SP1 HNRNPL GATAD2A TEAD4 PRDM10 REST ZNF629 TFE3 ZNF512 SIX5 TATDN3 BATF3 NONHSAG004244.2 NSL1 FLVCR1 FLVCR1-DT ANGEL2 RPS28P2 ENSG00000235182 VASH2
GH01J212906 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 32.1 +53.7 53746 10.8 CTCF RFX5 PRDM1 ZIC2 ZNF24 REST RAD21 POLR2A DPF2 ZNF341 piR-32559-029 piR-30444-020 piR-36770-006 piR-37567-010 piR-37656-015 piR-56229-004 FLVCR1-DT FLVCR1 TATDN3 SPATA45
GH01J212605 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -250.1 -250081 6 RNF2 CEBPG HNRNPL CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 REST ATF3 lnc-BATF3-8 ANGEL2 DTL FLVCR1 BATF3 FAM71A
GH01J212873 Enhancer 0.6 Ensembl ENCODE 34 +14.7 14726 0.8 NFIC NBN CEBPB NFIA MTA3 BCL6B FLVCR1 RF00017-472 VASH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FLVCR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FLVCR1

Top Transcription factor binding sites by QIAGEN in the FLVCR1 gene promoter:
  • C/EBPalpha
  • CBF-A
  • CBF-B
  • CP1A
  • HOXA5
  • NF-Y
  • NF-YA
  • PPAR-gamma1
  • PPAR-gamma2
  • RSRFC4

Genomic Locations for FLVCR1 Gene

Genomic Locations for FLVCR1 Gene
chr1:212,858,275-212,899,363
(GRCh38/hg38)
Size:
41,089 bases
Orientation:
Plus strand
chr1:213,031,597-213,072,705
(GRCh37/hg19)
Size:
41,109 bases
Orientation:
Plus strand

Genomic View for FLVCR1 Gene

Genes around FLVCR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLVCR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FLVCR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLVCR1 Gene

Proteins for FLVCR1 Gene

  • Protein details for FLVCR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Y0-FLVC1_HUMAN
    Recommended name:
    Feline leukemia virus subgroup C receptor-related protein 1
    Protein Accession:
    Q9Y5Y0
    Secondary Accessions:
    • Q1HE16
    • Q86XY9
    • Q9NVR9

    Protein attributes for FLVCR1 Gene

    Size:
    555 amino acids
    Molecular mass:
    59863 Da
    Quaternary structure:
    • Interacts with HPX.
    Miscellaneous:
    • [Isoform 2]: Has a probable mitochondrial transit peptide at positions 1-38.

    Alternative splice isoforms for FLVCR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLVCR1 Gene

Post-translational modifications for FLVCR1 Gene

Other Protein References for FLVCR1 Gene

No data available for DME Specific Peptides for FLVCR1 Gene

Domains & Families for FLVCR1 Gene

Gene Families for FLVCR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for FLVCR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FLVCR1 Gene

GenScript: Design optimal peptide antigens:
  • Feline leukemia virus subgroup C receptor-related protein 1 (FLVC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5Y0

UniProtKB/Swiss-Prot:

FLVC1_HUMAN :
  • Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family.
Family:
  • Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family.
genes like me logo Genes that share domains with FLVCR1: view

Function for FLVCR1 Gene

Molecular function for FLVCR1 Gene

UniProtKB/Swiss-Prot Function:
[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.
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation.

Phenotypes From GWAS Catalog for FLVCR1 Gene

Gene Ontology (GO) - Molecular Function for FLVCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 10648427
GO:0005515 protein binding IPI 20610401
GO:0015232 heme transporter activity IMP,TAS --
GO:0020037 heme binding IBA 21873635
GO:0051184 cofactor transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with FLVCR1: view
genes like me logo Genes that share phenotypes with FLVCR1: view

Human Phenotype Ontology for FLVCR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FLVCR1 Gene

MGI Knock Outs for FLVCR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for FLVCR1

CRISPR Products

miRNA for FLVCR1 Gene

miRTarBase miRNAs that target FLVCR1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLVCR1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FLVCR1 Gene

Localization for FLVCR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLVCR1 Gene

[Isoform 1]: Cell membrane. Multi-pass membrane protein.
[Isoform 2]: Mitochondrion membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLVCR1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
endosome 2
cytosol 2
lysosome 2
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FLVCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion IDA 23187127
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10648427
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FLVCR1: view

Pathways & Interactions for FLVCR1 Gene

genes like me logo Genes that share pathways with FLVCR1: view

Pathways by source for FLVCR1 Gene

Gene Ontology (GO) - Biological Process for FLVCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0006839 mitochondrial transport IDA 23187127
GO:0006879 cellular iron ion homeostasis TAS --
GO:0007275 multicellular organism development TAS 10648427
genes like me logo Genes that share ontologies with FLVCR1: view

No data available for SIGNOR curated interactions for FLVCR1 Gene

Drugs & Compounds for FLVCR1 Gene

(1) Drugs for FLVCR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with FLVCR1: view

Transcripts for FLVCR1 Gene

mRNA/cDNA for FLVCR1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLVCR1

Alternative Splicing Database (ASD) splice patterns (SP) for FLVCR1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - - -
SP2: - - - - - -
SP3: -
SP4:

Relevant External Links for FLVCR1 Gene

GeneLoc Exon Structure for
FLVCR1

Expression for FLVCR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FLVCR1 Gene

Protein differential expression in normal tissues from HIPED for FLVCR1 Gene

This gene is overexpressed in Fetal Liver (39.0) and Fetal testis (30.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FLVCR1 Gene



Protein tissue co-expression partners for FLVCR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FLVCR1

SOURCE GeneReport for Unigene cluster for FLVCR1 Gene:

Hs.7055

mRNA Expression by UniProt/SwissProt for FLVCR1 Gene:

Q9Y5Y0-FLVC1_HUMAN
Tissue specificity: Found all hematopoietic tissues including peripheral blood lymphocytes. Some expression is found in pancreas and kidney.

Evidence on tissue expression from TISSUES for FLVCR1 Gene

  • Intestine(4.4)
  • Blood(4.4)
  • Nervous system(3.4)
  • Kidney(2.2)
  • Liver(2.1)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FLVCR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Thorax:
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • prostate
  • ureter
  • urethra
  • urinary bladder
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FLVCR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FLVCR1 Gene

Orthologs for FLVCR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FLVCR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FLVCR1 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FLVCR1 30 31
  • 88.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FLVCR1 30 31
  • 87.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mfsd7b 30 31
  • 81.72 (n)
OneToOne
Flvcr1 17
Oppossum
(Monodelphis domestica)
Mammalia FLVCR1 31
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FLVCR1 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FLVCR1 30 31
  • 73.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FLVCR1 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia flvcr1 30
  • 69.99 (n)
Zebrafish
(Danio rerio)
Actinopterygii flvcr1 30 31
  • 66.6 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1424 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG1358 31
  • 49 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C09D4.1 31
  • 38 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
ManyToMany
-- 31
  • 48 (a)
ManyToMany
-- 31
  • 47 (a)
ManyToMany
-- 31
  • 22 (a)
ManyToMany
Species where no ortholog for FLVCR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FLVCR1 Gene

ENSEMBL:
Gene Tree for FLVCR1 (if available)
TreeFam:
Gene Tree for FLVCR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FLVCR1: view image

Paralogs for FLVCR1 Gene

Paralogs for FLVCR1 Gene

(1) SIMAP similar genes for FLVCR1 Gene using alignment to 2 proteins:

  • FLVC1_HUMAN
  • H7C3Z2_HUMAN
genes like me logo Genes that share paralogs with FLVCR1: view

Variants for FLVCR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FLVCR1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
636170 Likely Pathogenic: Stargardt disease 212,895,014(+) CAACAT/C FRAMESHIFT_VARIANT
725857 Likely Benign: not provided 212,858,977(+) C/T SYNONYMOUS_VARIANT
735691 Likely Benign: not provided 212,858,521(+) C/T SYNONYMOUS_VARIANT
738292 Likely Benign: not provided 212,858,668(+) C/A SYNONYMOUS_VARIANT
748979 Likely Benign: not provided 212,863,754(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FLVCR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FLVCR1 Gene

Variant ID Type Subtype PubMed ID
dgv571n100 CNV gain 25217958
dgv572n100 CNV gain 25217958
dgv99n67 CNV loss 20364138
esv1413001 CNV deletion 17803354
esv2674192 CNV deletion 23128226
esv2722517 CNV deletion 23290073
esv3546221 CNV deletion 23714750
esv3588758 CNV loss 21293372
nsv1007129 CNV gain 25217958
nsv1008383 CNV gain 25217958
nsv1135755 CNV deletion 24896259

Variation tolerance for FLVCR1 Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.11; 90.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FLVCR1 Gene

Human Gene Mutation Database (HGMD)
FLVCR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLVCR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLVCR1 Gene

Disorders for FLVCR1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for FLVCR1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
posterior column ataxia with retinitis pigmentosa
  • axpc1
inherited retinal disorder
  • retinal dystrophy
posterior column ataxia
  • biemond ataxia
fundus dystrophy
  • retinal dystrophy
retinitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FLVC1_HUMAN
  • Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]: A neurodegenerative syndrome beginning in infancy with areflexia and retinitis pigmentosa. Nyctalopia (night blindness) and peripheral visual field loss are usually evident during late childhood or teenage years, with subsequent progressive constriction of the visual fields and loss of central retinal function over time. A sensory ataxia caused by degeneration of the posterior columns of the spinal cord results in a loss of proprioceptive sensation that is clinically evident in the second decade of life and gradually progresses. Scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, and a sensory peripheral neuropathy are variable features of the disease. Affected individuals have no clinical or radiological evidence of cerebral or cerebellar involvement. {ECO:0000269 PubMed:21070897, ECO:0000269 PubMed:21267618}. Note=The disease is caused by mutations affecting the gene represented in this entry. Defective neuronal heme transmembrane export due to FLVCR1 mutations may abrogate the neuroprotective effects of neuroglobin and initiate an apoptotic cascade that results in the selective degeneration of photoreceptors in the neurosensory retina and sensory neurons in the posterior spinal cord.
  • Note=Defects in FLVCR1 are a cause of a sensory neuropathy resulting in pain insensitivity. Patients have decreased sensing of pain, temperature and touch. Self-injury, ulcers and amputations are commonly observed in affected individuals. {ECO:0000269 PubMed:27923065}.

Additional Disease Information for FLVCR1

genes like me logo Genes that share disorders with FLVCR1: view

No data available for Genatlas for FLVCR1 Gene

Publications for FLVCR1 Gene

  1. A putative cell surface receptor for anemia-inducing feline leukemia virus subgroup C is a member of a transporter superfamily. (PMID: 10400745) Tailor CS … Kabat D (Journal of virology 1999) 2 3 4 23
  2. Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. (PMID: 21070897) Rajadhyaksha AM … Higgins JJ (American journal of human genetics 2010) 2 3 4
  3. Genomic structure and evolutionary context of the human feline leukemia virus subgroup C receptor (hFLVCR) gene: evidence for block duplications and de novo gene formation within duplicons of the hFLVCR locus. (PMID: 11943475) Lipovich L … Quigley JG (Gene 2002) 3 4 23
  4. Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. (PMID: 27923065) Chiabrando D … Kurth I (PLoS genetics 2016) 3 4
  5. The mitochondrial heme exporter FLVCR1b mediates erythroid differentiation. (PMID: 23187127) Chiabrando D … Tolosano E (The Journal of clinical investigation 2012) 3 4

Products for FLVCR1 Gene

Sources for FLVCR1 Gene