AlphaFold predicted structure
AP5Z1 · O43299
Mean pLDDT
84.9/ 100
Confident
807 residues
Confidence breakdown
- Very high(≥ 90)55%
- Confident(70–90)31%
- Low(50–70)9%
- Very low(< 50)5%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
AP5Z1
Chr 7p22.1adaptor related protein complex 5 subunit zeta 1
- Aliases:
- SPG48, zeta
- MANE:
- ENST00000649063.2
Annotations refreshed 12 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalChildhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalHereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Autosomal recessive spastic paraplegia type 48
0.77hereditary spastic paraplegia 48
0.70hereditary spastic paraplegia
0.61Retinal dystrophy
0.50hereditary sensory and autonomic neuropathy with spastic paraplegia
0.37neurodegenerative disease
0.37hereditary disease
0.34restless legs syndrome
0.29poisoning
0.28response to xenobiotic stimulus
0.28
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
AP-5 complex subunit zeta-1
As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair
Diseases associated with AP5Z1
Curated MONDO disease pages that list AP5Z1 among their top associated genes.