- Datasheet
- References (2)
- Inventor Info
Info
Applications | ELISA IF WB |
Antigen/Gene or Protein Targets | NSD1 (Sotos Syndrome) |
Reactivity | Mouse |
Relevance |
KMT3B / NSD1 is a histone methyltransferase that preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. Defects in NSD1 are the cause of Sotos syndrome (SOTOSS) [MIM:117550]; also known as cerebral gigantism. It is a disorder characterized by excessively rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw are noted in several patients. Most cases of Sotos syndrome are sporadic and may represent new dominant mutation. |
Host | Mouse |
Immunogen | Recomb prot (738-891) |
Subclass | IgG1 kappa |
Notes |
Epitope localized between aa 738 and 891 Available in 100ul unit |
Research Area | Epigenetics & Nuclear Signalling |
References: 2 entries
Huang et al. 1998. EMBO J. 17(12):3398-412. PMID: 9628876.
Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators.
Europe PMC ID: 9628876
Add a reference
References: 2 entries
Huang et al. 1998. EMBO J. 17(12):3398-412. PMID: 9628876.
Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators.
Add a reference