LMBRD1

Chr 6q13

LMBR1 domain containing 1

Aliases:: FLJ11240, bA810I22.1, cblF
MANE:: ENST00000649934.3

OMIM: 612625 ↗NCBI: 55788 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LMBRD1 · Q9NUN5

v62025-08-01

Predicted Aligned Error matrix for LMBRD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.8/ 100

Confident

540 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)47%
Low(50–70)9%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Hyperammonaemia

Disease associations (Open Targets)

methylmalonic aciduria and homocystinuria type cblF
0.76
Methylmalonic acidemia with homocystinuria type cblF
0.69
Methylmalonic acidemia with homocystinuria
0.64
Methylmalonic acidemia with homocystinuria, type cblC
0.50
methylmalonic aciduria and homocystinuria type cblC
0.50
hereditary disease
0.42
homocystinuria
0.37
methylmalonic aciduria and homocystinuria
0.37
Vitamin B12-responsive methylmalonic acidemia type cblB
0.37
nephrotic syndrome
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lysosomal cobalamin transport escort protein LMBD1

Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors (PubMed:19136951). Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome (PubMed:27456980). Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791). Acts as an adapter protein which plays an important role in mediating and regulating the internalization of the insulin receptor (INSR) (By similarity). Involved in clathrin-mediated endocytosis of INSR via its interaction with adapter protein complex 2 (By similarity). Essential for the initiation of gastrulation and early formation of mesoderm structures during embryogenesis (By similarity)