AAGAB Chromosome 15
Alpha and gamma adaptin binding protein
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What This Gene Does
The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Associated Conditions (4)
Palmoplantar keratoderma
punctate type 1A
AAGAB-related disorder
Colon adenocarcinoma
Key Variants
RS138601241
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma
Health Risk
RS200477258
Conflicting classifications of pathogenicity
Health Risk
RS201133630
Conflicting classifications of pathogenicity
Health Risk
RS373106011
Conflicting classifications of pathogenicity
Health Risk
RS539301011
Conflicting classifications of pathogenicity
Health Risk
RS1057518846
Likely pathogenic
Palmoplantar keratoderma, Palmoplantar keratoderma
Health Risk
RS2505364268
Likely pathogenic
Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma
Health Risk
RS2505534485
Likely pathogenic
AAGAB-related disorder, AAGAB-related disorder
Health Risk
RS753247583
Likely pathogenic
Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma
Health Risk
RS1303861168
Pathogenic
Health Risk
RS1567027297
Pathogenic
Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma
Health Risk
RS1567027610
Pathogenic
Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138601241 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma |
| RS200477258 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201133630 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373106011 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS539301011 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057518846 | Health Risk | Likely pathogenic | Palmoplantar keratoderma, Palmoplantar keratoderma |
| RS2505364268 | Health Risk | Likely pathogenic | Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma |
| RS2505534485 | Health Risk | Likely pathogenic | AAGAB-related disorder, AAGAB-related disorder |
| RS753247583 | Health Risk | Likely pathogenic | Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma |
| RS1303861168 | Health Risk | Pathogenic | — |
| RS1567027297 | Health Risk | Pathogenic | Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma |
| RS1567027610 | Health Risk | Pathogenic | Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma |
| RS1567037561 | Health Risk | Pathogenic | Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma |
| RS1964467589 | Health Risk | Pathogenic | — |
| RS200564757 | Health Risk | Pathogenic | Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma |
| RS2140373111 | Health Risk | Pathogenic | — |
| RS2140380826 | Health Risk | Pathogenic | — |
| RS2505534817 | Health Risk | Pathogenic | Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma |
| RS746488412 | Health Risk | Pathogenic | Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma |
| RS748785284 | Health Risk | Pathogenic | Palmoplantar keratoderma, punctate type 1A, Colon adenocarcinoma |
| RS765401006 | Health Risk | Pathogenic | — |
| RS781596375 | Health Risk | Pathogenic | Palmoplantar keratoderma, punctate type 1A, Palmoplantar keratoderma |