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|Applications||ELISA IF WB|
|Antigen/Gene or Protein Targets||NSD1 (Sotos Syndrome)|
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.
|Immunogen||Recomb prot (738-891)|
Epitope localized between aa 738 and 891
Available in 100ul unit
|Research Area||Epigenetics & Nuclear Signalling|
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