Identity
HGNC
LOCATION
1p13.2
LOCUSID
ALIAS
BETA-4,CPSQ5,SPG47
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: 10717
MIM: 607245
HGNC: 572
Ensembl: ENSG00000134262
Variants:
dbSNP: 10717
ClinVar: 10717
TCGA: ENSG00000134262
COSMIC: AP4B1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36122674 | 2022 | AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range. | 1 |
| 36122674 | 2022 | AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range. | 1 |
| 32166732 | 2020 | AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. | 1 |
| 32166732 | 2020 | AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. | 1 |
| 30337681 | 2019 | Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. | 3 |
| 30337681 | 2019 | Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. | 3 |
| 29193663 | 2018 | Clinical and genetic characterization of AP4B1-associated SPG47. | 29 |
| 29430868 | 2018 | A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies. | 7 |
| 29193663 | 2018 | Clinical and genetic characterization of AP4B1-associated SPG47. | 29 |
| 29430868 | 2018 | A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies. | 7 |
| 24781758 | 2015 | An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. | 29 |
| 24781758 | 2015 | An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. | 29 |
| 22290197 | 2012 | Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . | 26 |
| 22290197 | 2012 | Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . | 26 |
Citation
Dessen P
AP4B1 (adaptor related protein complex 4 subunit beta 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60407/case-report-explorer/
