Rabbit anti-Human SMARCAL1 Polyclonal Antibody, FITC conjugated

Uniprot Id

Q9NZC9

Target Species

Human

Target Name

SMARCAL1

Target Full Name

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

Target Function

ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and 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. May play an important role in DNA damage response by acting at stalled replication forks.

Target Involvement

Schimke immuno-osseous dysplasia (SIOD)

Target Subcellular Location

Nucleus. Note=Recruited to damaged DNA regions.

Target Protein Families

SNF2/RAD54 helicase family, SMARCAL1 subfamily

Target Tissue Specificity

Ubiquitously expressed, with high levels in testis.

Target Synonyms

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

Target 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.