AAGAB (alpha and gamma adaptin binding protein)

2016-10-01  

Identity

HGNC
LOCATION
15q23
LOCUSID
ALIAS
KPPP1,PPKP1,PPKP1A,p34
FUSION GENES

Other Information

Locus ID:

NCBI: 79719
MIM: 614888
HGNC: 25662
Ensembl: ENSG00000103591

Variants:

dbSNP: 79719
ClinVar: 79719
TCGA: ENSG00000103591
COSMIC: AAGAB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103591ENST00000261880Q6PD74
ENSG00000103591ENST00000542650Q6PD74
ENSG00000103591ENST00000560362H0YL49
ENSG00000103591ENST00000561452Q6PD74

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
206410332011Polymorphisms in predicted miRNA binding sites and osteoporosis.33
230644162012Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.16
230001462012Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.12
313533122019AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis.3
234482442013Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma.2
235631982013Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.2
236330242013Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.2
237436482013Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.2
241628532014A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.1
242892922014A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.1

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