AP4S1 Chromosome 14
Adaptor related protein complex 4 subunit sigma 1
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What This Gene Does
This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Adaptor related protein complex 4
Locus Type
gene with protein product
Location
14q12
Ensembl
ENSG00000100478
Associated Conditions (12)
Spastic paraplegia
Hereditary spastic paraplegia 52
Hereditary spastic paraplegia
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Neurodevelopmental disorder
APS41-related disorder
Intellectual disability
Spastic Paraplegia 52
AP4S1-related disorder
Key Variants
RS147135554
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 52, Hereditary spastic paraplegia
Health Risk
RS200969079
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Inborn genetic diseases
Health Risk
RS387906970
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 52, Spastic paraplegia, Spastic paraplegia
Health Risk
RS563687343
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 52, Hereditary spastic paraplegia 52
Health Risk
RS1335804396
Likely pathogenic
Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS200033849
Likely pathogenic
Neurodevelopmental disorder, Spastic paraplegia, Neurodevelopmental disorder
Health Risk
RS2139067616
Likely pathogenic
Spastic paraplegia, Spastic paraplegia
Health Risk
RS2139067696
Likely pathogenic
Spastic paraplegia, Spastic paraplegia
Health Risk
RS2139098086
Likely pathogenic
Hereditary spastic paraplegia 52, Hereditary spastic paraplegia 52
Health Risk
RS2139569112
Likely pathogenic
Spastic paraplegia, Spastic paraplegia
Health Risk
RS377679827
Likely pathogenic
Hereditary spastic paraplegia 52, Hereditary spastic paraplegia 52
Health Risk
RS755820725
Likely pathogenic
Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147135554 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 52, Hereditary spastic paraplegia |
| RS200969079 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Inborn genetic diseases |
| RS387906970 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 52, Spastic paraplegia, Spastic paraplegia |
| RS563687343 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 52, Hereditary spastic paraplegia 52 |
| RS1335804396 | Health Risk | Likely pathogenic | Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases |
| RS200033849 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Spastic paraplegia, Neurodevelopmental disorder |
| RS2139067616 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2139067696 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2139098086 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 52, Hereditary spastic paraplegia 52 |
| RS2139569112 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS377679827 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 52, Hereditary spastic paraplegia 52 |
| RS755820725 | Health Risk | Likely pathogenic | Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases |
| RS758748011 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 52, Spastic paraplegia, Hereditary spastic paraplegia 52 |
| RS1566532837 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2139056017 | Health Risk | Pathogenic | — |
| RS2502388612 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2502522773 | Health Risk | Pathogenic | Hereditary spastic paraplegia 52, Hereditary spastic paraplegia 52 |
| RS568176223 | Health Risk | Pathogenic | Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases |
| RS754944359 | Health Risk | Pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 52, Spastic paraplegia |
| RS777974629 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS876661295 | Health Risk | Pathogenic | Hereditary spastic paraplegia 52, APS41-related disorder, Intellectual disability |
| RS886041127 | Health Risk | Pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 52, Spastic paraplegia |
| RS185246578 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 52, Spastic paraplegia, Spastic Paraplegia 52 |
| RS200440467 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 52, Spastic paraplegia, Intellectual disability |