SmarcAL1 Polyclonal Antibody
Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND

Application
| IHC-P, IHC-F, IF, ICC, E |
|---|---|
| Primary Accession | Q9NZC9 |
| Reactivity | Rat, Bovine |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 106 KDa |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human SmarcAL1 |
| Epitope Specificity | 581-680/954 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SUBCELLULAR LOCATION | Nucleus. |
| 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. |
| SUBUNIT | Interacts with RPA2; the interaction is direct and mediates the recruitment by the RPA complex of SMARCAL1 to sites of DNA damage. |
| 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. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | 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] |
| Gene ID | 50485 |
|---|---|
| Other Names | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1, 3.6.4.-, HepA-related protein, hHARP, Sucrose nonfermenting protein 2-like 1, SMARCAL1, HARP |
| Target/Specificity | Ubiquitously expressed, with high levels in testis. |
| Dilution | IHC-P=1:100-500,IHC-F=1:100-500,ICC=1:100-500,IF=1:100-500,ELISA=1:5000-10000 |
| Storage | Store at -20 ℃ for one year. Avoid repeated freeze/thaw cycles. 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 ℃. |
| Name | SMARCAL1 (HGNC:11102) |
|---|---|
| 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. |
| Cellular Location | Nucleus Note=Recruited to damaged DNA regions |
| Tissue Location | Ubiquitously expressed, with high levels in testis. |

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