FLVCR1

Chr 1

FLVCR choline and heme transporter 1

Also known as: AXPC1, FLVCR, MFSD7B, NEDMISH, PCA, PCARP, RETSNS, SLC49A1

NCBI Gene: 28982ENSG00000162769UniProt: Q9Y5Y0

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinopathy-sensory neuropathy syndrome
UniProtNeurodevelopmental disorder with microcephaly, absent speech, and hypotonia

Clinical highlights

Gene-disease validity (ClinGen)
FLVCR1-related retinopathy with or without ataxia · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.67
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — FLVCR1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.67LOEUF
pLI 0.001
Z-score 2.77
OE 0.38 (0.23–0.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.85Z-score
OE missense 0.86 (0.77–0.95)
243 obs / 283.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.23–0.67)
0≤0.351.4
Missense OE?0.86 (0.77–0.95)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 9 / 23.5Missense obs/exp: 243 / 283.3Syn Z: -0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FLVCR1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients