AP5Z1 Chromosome 7
Adaptor related protein complex 5 subunit zeta 1
Upload your DNA to see your personal genotypes for variants in AP5Z1.
What This Gene Does
This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
"Armadillo like helical domain containing|Adaptor related protein complex 5"
Locus Type
gene with protein product
Location
7p22.1
Ensembl
ENSG00000242802
Associated Conditions (27)
Hereditary spastic paraplegia 48
AP5Z1-related disorder
Hereditary spastic paraplegia
Retinal dystrophy
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Inborn genetic diseases
Colon adenocarcinoma
Thymoma
Melanoma
Hepatocellular carcinoma
Clear cell carcinoma of kidney
Malignant lymphoma
large B-cell
diffuse
Malignant tumor of esophagus
Lung cancer
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
+7 more conditions
Key Variants
RS1038026978
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
Health Risk
RS1045333933
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
Health Risk
RS112283999
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
Health Risk
RS113014863
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, AP5Z1-related disorder, Hereditary spastic paraplegia 48
Health Risk
RS113184057
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48
Health Risk
RS117659667
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
Health Risk
RS138654444
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48
Health Risk
RS141607676
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
Health Risk
RS1422776122
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
Health Risk
RS143513418
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48
Health Risk
RS143800095
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
Health Risk
RS146682319
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
Health Risk
All Variants (146)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375030531 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS376329631 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Inborn genetic diseases, Hereditary spastic paraplegia |
| RS376913055 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS376916591 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hereditary spastic paraplegia 48, Inborn genetic diseases |
| RS377310579 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS377507553 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48 |
| RS527642993 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 48, Hereditary spastic paraplegia |
| RS527985598 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS534516510 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48 |
| RS535174478 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Inborn genetic diseases |
| RS543467648 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS547137141 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 48, Hereditary spastic paraplegia |
| RS547171686 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Inborn genetic diseases, Hereditary spastic paraplegia |
| RS551568063 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Inborn genetic diseases, Hereditary spastic paraplegia 48 |
| RS554060393 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Inborn genetic diseases, Hereditary spastic paraplegia 48 |
| RS558636596 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS559842146 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Inborn genetic diseases, Hereditary spastic paraplegia 48 |
| RS561646689 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS569601905 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS572271008 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, AP5Z1-related disorder |
| RS60284677 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48 |
| RS61750324 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Inborn genetic diseases |
| RS746349613 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS748280348 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS750818039 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48 |
| RS756140557 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS759055397 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS759449685 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS761290075 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 48, Hereditary spastic paraplegia |
| RS761636459 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 48, Hereditary spastic paraplegia |
| RS763250825 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48 |
| RS764332870 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Inborn genetic diseases, Hereditary spastic paraplegia 48 |
| RS765690642 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Inborn genetic diseases, Hereditary spastic paraplegia 48 |
| RS768017182 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS769272823 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 48, Hereditary spastic paraplegia |
| RS770095188 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Inborn genetic diseases, Hereditary spastic paraplegia 48 |
| RS771385792 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Inborn genetic diseases, Hereditary spastic paraplegia 48 |
| RS771683676 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Macular dystrophy with or without extraocular features, Hereditary spastic paraplegia 48 |
| RS773950276 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, AP5Z1-related disorder |
| RS774921196 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48 |
| RS775572689 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS775865217 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS775883752 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, AP5Z1-related disorder, Hereditary spastic paraplegia 48 |
| RS777093701 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48 |
| RS777143531 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 48, Hereditary spastic paraplegia |
| RS777233282 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia, Hereditary spastic paraplegia 48 |
| RS778734781 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Inborn genetic diseases, Hereditary spastic paraplegia 48 |
| RS780422345 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS886062353 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS925870726 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 48, Hereditary spastic paraplegia |