产品货号 :  mlR19923

英文名称 :  SmarcAL1

中文名称 :  蔗糖发酵蛋白2样蛋白1抗体

别    名 :  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.  

研究领域 :  肿瘤  细胞生物  发育生物学  t-淋巴细胞  表观遗传学  

抗体来源 :  Rabbit

克隆类型 :  Polyclonal

交叉反应 :  Human, Mouse, Rat, Cow, Horse, Sheep,

产品应用 :  ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.

分 子 量 :  106kDa

细胞定位 :  细胞核

性    状 :  Lyophilized or Liquid

浓    度 :  1mg/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human SmarcAL1:581-680/954

亚    型 :  IgG

纯化方法 :  affinity purified by Protein A

储 存 液 :  0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

保存条件 :  Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed :  PubMed

产品介绍 :  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

Important Note:

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.