Gene Accession
Q92560
Gene Alias
Protein names Recommended name Ubiquitin carboxyl-terminal hydrolase BAP1 Curated EC number EC:3.4.19.12 2 Publications (UniProtKB | ENZYME | Rhea) Alternative names BRCA1-associated protein 1 1 Publication Cerebral protein 6 1 Publication Gene names Name BAP1 1 PublicationImported Synonyms KIAA0272 1 Publication ORF names hucep-6 1 Publication
Background
Patients with germline mutations in BAP1 may develop several flesh-colored melanocytic BAP1–mutated atypical intradermal tumors (MBAITs). These tumors generally develop earlier than other BAP1–associated tumors, highlighting an important role for dermatologists in identifying and screening patients with a history suggestive of a germline mutation.