AP4M1

Chr 7q22.1

adaptor related protein complex 4 subunit mu 1

Aliases:: MU-ARP2, MU-4, SPG50
MANE:: ENST00000359593.9

OMIM: 602296 ↗NCBI: 9179 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

AP4M1 · O00189

v62025-08-01

Predicted Aligned Error matrix for AP4M1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.4/ 100

Confident

453 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)23%
Low(50–70)9%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Severe intellectual disability and progressive spastic paraplegia
0.77
Spastic paraplegia
0.75
Intellectual disability
0.49
neurodegenerative disease
0.48
hereditary disease
0.45
AP-4 deficiency syndrome
0.45
hereditary spastic paraplegia
0.42
spastic quadriplegic cerebral palsy
0.37
Inherited congenital spastic tetraplegia
0.37
Abnormality of the nervous system
0.34

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

Protein function (UniProt)

AP-4 complex subunit mu-1

Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028, PubMed:11139587, PubMed:11802162, PubMed:20230749). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system (PubMed:11139587, PubMed:20230749). It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons (By similarity). Within AP-4, the mu-type subunit AP4M1 is directly involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos (PubMed:10436028, PubMed:11139587, PubMed:20230749, PubMed:26544806). The adaptor protein complex 4 (AP-4) may also recognize other types of sorting signal (By similarity)