AAGAB |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- AAGAB (HGNC:25662) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- alpha and gamma adaptin binding protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ11506, p34
- %HI
- 50.94(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.04(Read more about gnomAD LOEUF score)
- Cytoband
- 15q23
- Genomic Coordinates
-
GRCh37/hg19: chr15:67493005-67547536 NCBI Ensembl UCSC GRCh38/hg38: chr15:67200667-67255198 NCBI Ensembl UCSC - MANE Select Transcript
- NM_024666.5 ENST00000261880.10 (Read more about MANE Select)
- Function
- May be involved in endocytic recycling of growth factor receptors such as EGFR. {ECO:0000269|PubMed:23064416}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-16608
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
02/28/2013
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- palmoplantar keratoderma, punctate type 1A Monarch
HI Evidence:
-
PUBMED:
23064416
Pohler et al 2012: 18 families with autosomal dominant punctate palmoplantar keratoderma were shown to have loss of function mutations (variety of nonsense, frameshift and splicing mutations) in AAGAB. The skin findings were variable, with both mild and severe manifestations and onset in the first or second decade of life. Authors of this paper state that anecdotal association of AAGAB mutations with neoplasia has not been proven and may be coincidental.
-
PUBMED:
23000146
Giel et al 2012: 2 novel nonsense mutations described in 3 independent pedigrees segregating autosomal dominant punctate palmoplantar keratoderma. Both intra- and inter-familial phenotypic heterogeneity was described.
HI Evidence Comments:
Punctate palmoplantar keratoderma (PPKP) type I (PPKP1), also called keratosis punctate palmoplantaris type Buschke-Fischer-Brauer, is a rare hereditary skin disease of the palms and soles and is characterized by multiple hyperkeratotic papules and central indentation irregularly distributed on the palms and soles. This disorder was recently found to be associated with haploinsufficiency of AAGAB.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No focal duplications were found at the time of this review.
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)