Function
Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription.
Biological Context
Subcellular Location: Nucleus
Disease Association: Harel-Tora neurodevelopmental syndrome (HATONS) : An autosomal dominant disorder characterized by global motor and language developmental delay, hypotonia, variably impaired intellectual development, and dysmorphic facial features, including hypertelorism, epicanthal folds, blepharoptosis, a small nose and mouth, and low-set, posteriorly rotated ears. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Ataxin-7-like protein 3 (ATXN7L3) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-347aa, with C-terminal 6xHis-tagged tag, molecular weight 45.6kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
