Identity
HGNC
LOCATION
15q23
LOCUSID
ALIAS
KPPP1,PPKP1,PPKP1A,p34
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: 79719
MIM: 614888
HGNC: 25662
Ensembl: ENSG00000103591
Variants:
dbSNP: 79719
ClinVar: 79719
TCGA: ENSG00000103591
COSMIC: AAGAB
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000103591 | ENST00000261880 | Q6PD74 |
| ENSG00000103591 | ENST00000542650 | Q6PD74 |
| ENSG00000103591 | ENST00000560362 | H0YL49 |
| ENSG00000103591 | ENST00000561452 | Q6PD74 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38311882 | 2024 | Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark. | 0 |
| 38311882 | 2024 | Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark. | 0 |
| 31526046 | 2020 | AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer. | 2 |
| 31526046 | 2020 | AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer. | 2 |
| 30451279 | 2019 | Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB. | 2 |
| 31353312 | 2019 | AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis. | 17 |
| 30451279 | 2019 | Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB. | 2 |
| 31353312 | 2019 | AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis. | 17 |
| 26608363 | 2016 | Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. | 2 |
| 26608363 | 2016 | Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. | 2 |
| 24573067 | 2015 | Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. | 4 |
| 25771163 | 2015 | Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA. | 0 |
| 24573067 | 2015 | Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. | 4 |
| 25771163 | 2015 | Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA. | 0 |
| 24162853 | 2014 | A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma. | 2 |
Citation
Dessen P
AAGAB (alpha and gamma adaptin binding protein)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56580/aagab-(alpha-and-gamma-adaptin-binding-protein)
