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Rabbit Anti-SmarcAL1/FITC Conjugated antibody
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. [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:24580]. 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 SLCterminal domain.
Database links:
Entrez Gene: 338072 Cow
Entrez Gene: 50485 Human
Entrez Gene: 5876 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
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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