Product Name	SmarcAL1
Chinese Name	蔗糖发酵蛋白2样蛋白1抗体
Alias	HARP; HepA Related Protein; HepA-related protein; hHARP; SIOD; SMAL1_HUMAN; SMARCA like Protein 1; smarcal1; Sucrose nonfermenting protein 2 like 1; Sucrose nonfermenting protein 2-like 1; SWI/SNF Related; SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily A like protein 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1.
Research Area	Tumour  Cell biology  Developmental biology  t-lymphocyte  Epigenetics
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Cow, Horse, Sheep, )
Applications	ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	106kDa
Cellular localization	The nucleus
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human SmarcAL1: 581-680/954
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	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: 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. Subunit: Interacts with RPA2; the interaction is direct and mediates the recruitment by the RPA complex of SMARCAL1 to sites of DNA damage. Subcellular Location: Nucleus. Tissue Specificity: Ubiquitously expressed, with high levels in testis. 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. Similarity: Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily. Contains 2 HARP domains. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. SWISS: Q9NZC9 Gene ID: 50485 Database links: Entrez Gene: 338072 Cow Entrez Gene: 50485 Human Entrez Gene: 54380 Mouse Entrez Gene: 316477 Rat Omim: 606622 Human SwissProt: Q9TTA5 Cow SwissProt: Q9NZC9 Human SwissProt: Q8BJL0 Mouse SwissProt: B4F769 Rat Unigene: 516674 Human Unigene: 274232 Mouse Unigene: 34679 Rat

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