Identity
HGNC
LOCATION
14q12
LOCUSID
ALIAS
AP47B,CLA20,CLAPS4,CPSQ6,SPG52
FUSION GENES
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: 11154
MIM: 607243
HGNC: 575
Ensembl: ENSG00000100478
Variants:
dbSNP: 11154
ClinVar: 11154
TCGA: ENSG00000100478
COSMIC: AP4S1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31660686 | 2020 | Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia. | 2 |
| 32216065 | 2020 | Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. | 14 |
| 31660686 | 2020 | Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia. | 2 |
| 32216065 | 2020 | Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. | 14 |
| 27444738 | 2016 | Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families. | 10 |
| 27444738 | 2016 | Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families. | 10 |
| 25552650 | 2015 | Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. | 28 |
| 25552650 | 2015 | Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. | 28 |
Citation
Dessen P
AP4S1 (adaptor related protein complex 4 subunit sigma 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60411/ap4s1-(adaptor-related-protein-complex-4-subunit-sigma-1)
