Molecular weight (DA)
105kD
Immunogen
Synthesized peptide derived from human SMAL1 AA range: 485-535
Specificity
This antibody detects endogenous levels of SMAL1 at Human/Mouse/Rat
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.230% sodium azide.
Dilution rate
WB 1:500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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],
Function
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
Other name
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)
Human protein sequence Database
Q9NZC9
Mouse protein sequence database
Q8BJL0
Rat protein sequence database
B4F769
Cellular localization
Nucleus . Recruited to damaged DNA regions.
Tissue expression
Ubiquitously expressed, with high levels in testis.
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