AAGAB (alpha and gamma adaptin binding protein)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 79719 |
| Gene name | Alpha and gamma adaptin binding protein |
| Gene symbol | AAGAB |
| Synonyms (NCBI Gene) |
KPPP1PPKP1PPKP1Ap34
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| Chromosome | 15 |
| Chromosome location | 15q23 |
| Summary | 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 s |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q6PD74 | ||||||||||
| Protein name | Alpha- and gamma-adaptin-binding protein p34 | ||||||||||
| Protein function | May be involved in endocytic recycling of growth factor receptors such as EGFR. | ||||||||||
| PDB | 7TWD | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus. {ECO:0000269|PubMed:23000146, ECO:0000269|PubMed:23064416}. | ||||||||||
| Sequence |
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| Sequence length | 315 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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