MYSM1 ist ein Gen, das durch das Symbol MYSM1 kodiert wird. Im Allgemeinen auch bezeichnet als: Histone H2A deubiquitinase 2A-DUB; Myb-like, SWIRM and MPN domain-containing protein 1; KIAA1915. MYSM1 hat eine Masse von 95.03kDa, eine Aminosäurelänge von 828, und ist an Bone marrow failure syndrome 4 beteiligt.
Wir bieten 6 antikörper gegen MYSM1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Metalloprotease that specifically deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Preferentially deubiquitinates monoubiquitinated H2A in hyperacetylated nucleosomes. Deubiquitination of histone H2A leads to facilitate the phosphorylation and dissociation of histone H1 from the nucleosome. Acts as a coactivator by participating in the initiation and elongation steps of androgen receptor (AR)-induced gene activation. Required for correct regulation of hematopoiesis and lymphocyte differentiation (PubMed:28115216, PubMed:26220525).
Rolle bei Krankheiten
Bone marrow failure syndrome 4: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra hematopoietic features. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive.
Sequenzähnlichkeiten
Belongs to the peptidase M67A family. MYSM1 subfamily.
