Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23431
MIM: 607244
HGNC: 573
Ensembl: ENSG00000081014
Variants:
dbSNP: 23431
ClinVar: 23431
TCGA: ENSG00000081014
COSMIC: AP4E1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38281682 | 2024 | The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia. | 1 |
| 38281682 | 2024 | The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia. | 1 |
| 32895917 | 2021 | Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients. | 3 |
| 32895917 | 2021 | Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients. | 3 |
| 32979048 | 2020 | Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. | 33 |
| 32979048 | 2020 | Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. | 33 |
| 31003007 | 2019 | Genetic factors and therapy outcomes in persistent developmental stuttering. | 5 |
| 31003007 | 2019 | Genetic factors and therapy outcomes in persistent developmental stuttering. | 5 |
| 26542808 | 2015 | Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex. | 16 |
| 26544806 | 2015 | Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. | 33 |
| 26542808 | 2015 | Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex. | 16 |
| 26544806 | 2015 | Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. | 33 |
| 20972249 | 2011 | Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. | 86 |
| 20972249 | 2011 | Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. | 86 |
Citation
Dessen P
AP4E1 (adaptor related protein complex 4 subunit epsilon 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60409/ap4e1-(adaptor-related-protein-complex-4-subunit-epsilon-1)
