MYSM1 è un gene codificato dal simbolo MYSM1. Comunemente indicato anche come: Histone H2A deubiquitinase 2A-DUB; Myb-like, SWIRM and MPN domain-containing protein 1; KIAA1915. MYSM1 ha una massa di 95.03kDa, una lunghezza di amminoacidi di 828, ed è implicato in Bone marrow failure syndrome 4.
Offriamo 6 anticorpi contro MYSM1, allevati nel Coniglio, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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).
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the peptidase M67A family. MYSM1 subfamily.
Posizione cellulare
Nucleus.
