SRP0386
NSD1 human
recombinant, expressed in E. coli, ≥63% (SDS-PAGE)
Synonym(s):
KMT3B, STO, nuclear receptor binding SET domain protein 1
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About This Item
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biological source
human
recombinant
expressed in E. coli
assay
≥63% (SDS-PAGE)
form
aqueous solution
mol wt
54 kDa
packaging
pkg of 50 μg
NCBI accession no.
UniProt accession no.
shipped in
dry ice
storage temp.
−70°C
Gene Information
human ... NSD1(64324)
General description
Human NSD1 (GenBank Accession No. NM_022455), amino-acids 1849-2094 with N-terminal GST tag, MW = 54 kDa, expressed in an E.coli expression system.
wgk_germany
WGK 2
flash_point_f
Not applicable
flash_point_c
Not applicable
Certificates of Analysis (COA)
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Human mutation, 28(11), 1098-1107 (2007-06-15)
Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, learning difficulties, and macrocephaly with frequent pre- and postnatal overgrowth with advanced bone age. Here, we report on our experience in the molecular diagnostic of Sotos syndrome on 116
Cell biochemistry and function, 26(2), 146-150 (2007-04-18)
Nuclear receptor-binding SET-domain-containing protein 1 (NSD1), a culprit gene for Sotos syndrome, contains a su(var)3-9, enhancer-of-zeste, trithorax (SET) domain that is responsible for histone methyltransferase activity and other domains such as plant homeodomain (PHD) and proline-tryptophan-tryptophan-proline (PWWP) involved in protein-protein
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