FLVCR1
Chr 1ARFLVCR choline and heme transporter 1
Also known as: AXPC1, FLVCR, MFSD7B, NEDMISH, PCA, PCARP, RETSNS, SLC49A1
The protein functions as a transporter that mediates uptake of choline and ethanolamine for phospholipid biosynthesis and exports heme from cells to prevent toxicity. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, as well as retinopathy-sensory neuropathy syndrome. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.668), and clinical manifestations primarily affect the nervous system with early neurodevelopmental impacts.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in 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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools