SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 (EC 3.6.4.-) (HepA-related protein) (hHARP) (Sucrose nonfermenting protein 2-like 1)
宿主:
Rabbit
稀释比:
WB 1:500-2000
免疫原:
Synthesized peptide derived from human SMAL1 AA range: 485-535
储存条件:
-20°C/1 year
克隆性:
Polyclonal
抗体亚型:
IgG
浓度:
1 mg/ml
实测条带:
105kD
基因ID:
50485
蛋白序列:
Q9NZC9
细胞定位:
Nucleus . Recruited to damaged DNA regions.
研究背景:
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008],