LMBRD1
Chr 6ARLMBR1 domain containing 1
Also known as: C6orf209, LMBD1, MAHCF, NESI
The LMBRD1 protein functions as a lysosomal membrane chaperone that exports cobalamin (vitamin B12) from lysosomes to the cytosol by forming a complex with ABCD4 and MMACHC transporters. Mutations cause methylmalonic aciduria and homocystinuria (cblF and cblJ types), disorders of vitamin B12 metabolism that typically present in infancy with developmental delay, failure to thrive, and megaloblastic anemia. This condition follows autosomal recessive inheritance.
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
LMBRD1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools