AP4E1 Chromosome 15
Adaptor related protein complex 4 subunit epsilon 1
Upload your DNA to see your personal genotypes for variants in AP4E1.
What This Gene Does
This gene encodes a member of the adaptor complexes large 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 a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 4"
Locus Type
gene with protein product
Location
15q21.2
Ensembl
ENSG00000081014
Associated Conditions (14)
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases
AP4E1-related disorder
Hereditary spastic paraplegia 51
Neurodevelopmental delay
Clear cell carcinoma of kidney
Stuttering
familial persistent
1
Congenital myopathy
Developmental disorder
ALG12-congenital disorder of glycosylation
Abnormality of the nervous system
Key Variants
RS114575519
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS141278078
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, AP4E1-related disorder
Health Risk
RS142215198
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 51, Spastic paraplegia
Health Risk
RS142762839
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia, Neurodevelopmental delay
Health Risk
RS143624283
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS144189610
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS145541719
Conflicting classifications of pathogenicity
Spastic paraplegia, AP4E1-related disorder, Spastic paraplegia
Health Risk
RS148499164
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 51, Stuttering
Health Risk
RS148817957
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, AP4E1-related disorder
Health Risk
RS201177806
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS369028190
Conflicting classifications of pathogenicity
Health Risk
RS371690344
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, AP4E1-related disorder
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114575519 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS141278078 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, AP4E1-related disorder |
| RS142215198 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 51, Spastic paraplegia |
| RS142762839 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia, Neurodevelopmental delay |
| RS143624283 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS144189610 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS145541719 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, AP4E1-related disorder, Spastic paraplegia |
| RS148499164 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 51, Stuttering |
| RS148817957 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, AP4E1-related disorder |
| RS201177806 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS369028190 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371690344 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, AP4E1-related disorder |
| RS375848961 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Spastic paraplegia, Hereditary spastic paraplegia |
| RS542940704 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS557252541 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS562913612 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756384880 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, AP4E1-related disorder |
| RS764886183 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS765951750 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS773401224 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Congenital myopathy, Inborn genetic diseases |
| RS775899244 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, AP4E1-related disorder |
| RS991693986 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS1555456727 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1555462184 | Health Risk | Likely pathogenic | Stuttering, familial persistent, 1 |
| RS1567230528 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 51, Hereditary spastic paraplegia 51 |
| RS2063801225 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2140861869 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2140862092 | Health Risk | Likely pathogenic | — |
| RS2140878481 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2141164712 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2504643899 | Health Risk | Likely pathogenic | Developmental disorder, Developmental disorder |
| RS2504691114 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2504796812 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 51, Hereditary spastic paraplegia 51 |
| RS773929706 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS868844377 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1011045344 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1313275799 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, Hereditary spastic paraplegia 51, Spastic paraplegia |
| RS1567269045 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2064899680 | Health Risk | Pathogenic | Hereditary spastic paraplegia 51, Hereditary spastic paraplegia 51 |
| RS2140861877 | Health Risk | Pathogenic | Hereditary spastic paraplegia 51, Hereditary spastic paraplegia 51 |
| RS2140934862 | Health Risk | Pathogenic | — |
| RS2140934998 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS754944429 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2141147450 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 51, Spastic paraplegia |
| RS2141164878 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 51, Spastic paraplegia, Hereditary spastic paraplegia 51 |
| RS569567659 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the nervous system, Spastic paraplegia, Abnormality of the nervous system |
| RS757657323 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Stuttering, Spastic paraplegia |