Gene: FLVCR1

Alternate names for this Gene: AXPC1|FLVCR|MFSD7B|PCA|PCARP|SLC49A1

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.3

Description of this Gene: FLVCR heme transporter 1

Type of Gene: protein-coding

Gene: FLVCR1-DT

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1468358104 in FLVCR1;FLVCR1-DT gene and Movement Disorders PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 9409377 1997 An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.

PMID 21267618 2011 Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

PMID 27923065 2016 Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

PMID 24628582 2015 Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

PMID 21070897 2010 Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

rs1468358104 in FLVCR1;FLVCR1-DT gene and Muscle hypotonia PMID 9409377 1997 An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.

PMID 21267618 2011 Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

PMID 21070897 2010 Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 27923065 2016 Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

PMID 24628582 2015 Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

rs267606819 in FLVCR1;FLVCR1-DT gene and POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA PMID 21267618 2011 Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

PMID 21070897 2010 Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.