ABCD4

Chr 14q24.3

ATP binding cassette subfamily D member 4

Aliases:: PMP69, P70R, EST352188
MANE:: ENST00000356924.9

OMIM: 603214 ↗NCBI: 5826 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ABCD4 · O14678

v62025-08-01

Predicted Aligned Error matrix for ABCD4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.5/ 100

Confident

606 residues

Confidence breakdown

Very high(≥ 90)58%
Confident(70–90)33%
Low(50–70)2%
Very low(< 50)6%

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

Disease associations (Open Targets)

methylmalonic acidemia with homocystinuria, type cblJ
0.81
Methylmalonic acidemia with homocystinuria
0.74
methylmalonic aciduria and homocystinuria type cblC
0.51
Methylmalonic acidemia with homocystinuria, type cblC
0.51
homocystinuria
0.37
Vitamin B12-responsive methylmalonic acidemia type cblB
0.37
vitamin B deficiency
0.33
alcohol drinking
0.21
hereditary disease
0.19
X-linked adrenoleukodystrophy
0.05

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

Protein function (UniProt)

Lysosomal cobalamin transporter ABCD4

Lysosomal membrane protein that transports cobalamin (Vitamin B12) from the lysosomal lumen to the cytosol in an ATP-dependent manner (PubMed:22922874, PubMed:28572511, PubMed:31467407, PubMed:33845046). Targeted by LMBRD1 lysosomal chaperone from the endoplasmic reticulum to the lysosomal membrane (PubMed:27456980). Then forms a complex with lysosomal chaperone LMBRD1 and cytosolic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791)