基因名称(Gene Name)
SMARCAL1 HARP
免疫原
Synthesized peptide derived from human SMAL1 AA range: 485-535
特异性
This antibody detects endogenous levels of SMAL1 at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.230% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
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)
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],
功能
disease:Defects in SMARCAL1 are a cause of Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]. SIOD causes spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischema.,function:ATP-dependent annealing helicase that catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA.,online information:SMARCAL1 mutation db,similarity:Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily.,similarity:Contains 1 helicase ATP-binding domain.,similarity:Contains 1 helicase C-terminal domain.,similarity:Contains 2 HARP
