For Research Use Only. Not for use in diagnostic procedures.

Lyophilized powder

Add 100ul of sterile PBS. Final peptide concentration is 1 mg/ml in PBS. For longer periods of storage, store at -20 degree C. Avoid repeat freeze-thaw cycles.

Small volumes of SMARCAL1 blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

This is a synthetic peptide designed for use in combination with anti-SMARCAL1 antibody made

Target Description: SMARCAL1 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. Mutations in SMARCAL1 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.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.

Peptide

Western Blot (WB)

106kDa

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

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

HARP; hHARP??[Similar Products]

SMAL1_HUMAN

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]

SMARCAL1: 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. Defects in SMARCAL1 are a cause of Schimke immuno-osseous dysplasia (SIOD). 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. Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily.

Protein type: EC 3.6.4.-; EC 3.6.1.-; Helicase

Chromosomal Location of Human Ortholog: 2q35

Cellular Component: nucleoplasm; DNA replication factor A complex; nucleus

Molecular Function: DNA-dependent ATPase activity; protein binding; DNA binding; helicase activity; ATP binding

Biological Process: regulation of transcription from RNA polymerase II promoter; DNA strand renaturation; chromatin modification; DNA repair; response to DNA damage stimulus; DNA metabolic process; replication fork processing

Disease: Immunoosseous Dysplasia, Schimke Type

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