| Structural highlights
Disease
AAGAB_HUMAN Punctate palmoplantar keratoderma type 1. The disease is caused by variants affecting the gene represented in this entry.
Function
AAGAB_HUMAN May be involved in endocytic recycling of growth factor receptors such as EGFR.[1]
References
- ↑ Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14. PMID:23064416 doi:https://dx.doi.org/10.1038/ng.2444
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