SWI/SNF related; matrix associated; actin dependent regulator of chromatin; subfamily a-like 1; SMARCAL1; HARP; HHARP

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

Polyclonal

IgG

Rabbit

Antigen Affinity Purified

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of anti-SMARCAL1 antibody 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.

ELISA (EIA), Western Blot (WB)

105,938 Da[Similar Products]

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; HepA-related protein; SMARCA-like protein 1; ATP-driven annealing helicase; sucrose nonfermenting protein 2-like 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.-; Helicase; EC 3.6.1.-

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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