MYSM1 est un gène codé par le symbole MYSM1. Communément appelé aussi: Histone H2A deubiquitinase 2A-DUB; Myb-like, SWIRM and MPN domain-containing protein 1; KIAA1915. MYSM1 a une masse de 95.03kDa, une longueur d'acide aminé de 828, et est impliqué dans Bone marrow failure syndrome 4.
Nous proposons 6 des anticorps contre MYSM1, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé 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).
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the peptidase M67A family. MYSM1 subfamily.
Localisation cellulaire
Nucleus.
