RBCC Red Blood Cell Collection

AAGAB_HUMAN

Source: PM19886704
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: AAGAB
Protein names and data: AAGAB_HUMAN , Alpha- and gamma-adaptin-binding protein p34 Lenght: 315 a.a.
Mass: 34594 Da
fasta formatted sequence
Function: May be involved in endocytic recycling of growth factor receptors such as EGFR.
Disease: ( OMIM: 148600 614888 ) Keratoderma, palmoplantar, punctate 1A (PPKP1A) [MIM:148600]: An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytosol.
Tissue specificity: Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus.

Genetic variants

132 - 132 I -> L (in dbSNP:rs7173826). VAR_021533 7173826

Database cross-references

UniProt: Q6PD74
Ensembl: ENST00000261880
MIM: 148600
MIM: 614888
neXtProt: NX_Q6PD74
Antibodypedia: Q6PD74 (may not find the protein thus also not any antibody)
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