AP5Z1
Chr 7ARadaptor related protein complex 5 subunit zeta 1
Also known as: KIAA0415, SPG48, zeta
The protein functions as a putative helicase required for homologous recombination DNA double-strand break repair and may also be involved in endosomal transport as part of the AP-5 adaptor protein complex. Mutations cause spastic paraplegia 48, an autosomal recessive disorder affecting the motor system. The gene shows tolerance to loss-of-function variants (LOEUF 1.47), suggesting that complete loss of function may be required for disease manifestation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
800 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 18 | 0 | 6 | 0 | 24 |
Likely Pathogenic | 30 | 2 | 3 | 1 | 36 |
VUS | 5 | 280 | 47 | 7 | 339 |
Likely Benign | 0 | 5 | 115 | 152 | 272 |
Benign | 0 | 0 | 62 | 3 | 65 |
Conflicting | — | 47 | |||
| Total | 53 | 287 | 233 | 163 | 783 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
AP5Z1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools