MAL

Chr 2q11.1

mal, T cell differentiation protein (MAL blood group)

Aliases:: MVP17, VIP17
MANE:: ENST00000309988.9

OMIM: 188860 ↗NCBI: 4118 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MAL · P21145

v62025-08-01

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

Mean pLDDT

88.6/ 100

Confident

153 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)26%
Low(50–70)3%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Adult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Pelizaeus-Merzbacher-like disease
0.38
neurodegenerative disease
0.27
pathologic nystagmus
0.27
Nystagmus
0.27
Global developmental delay
0.27
cancer
0.10
gastric cancer
0.09
head and neck squamous cell carcinoma
0.09
infection
0.08
retinitis pigmentosa
0.08

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

Protein function (UniProt)

Myelin and lymphocyte protein

May be involved in vesicular trafficking from the Golgi apparatus to the cell membrane. Plays a role in the maintenance of the myelin sheath, and in axon-glia and glia-glia interactions