Aliases for SMARCAL1 Gene
External Ids for SMARCAL1 Gene
Previous GeneCards Identifiers for SMARCAL1 Gene
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]
GeneCards Summary for SMARCAL1 Gene
SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1) is a Protein Coding gene. Diseases associated with SMARCAL1 include Schimke Immunoosseous Dysplasia and Atrioventricular Septal Defect. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and AMPK Enzyme Complex Pathway. Gene Ontology (GO) annotations related to this gene include helicase activity and annealing helicase activity. An important paralog of this gene is ZRANB3.
UniProtKB/Swiss-Prot Summary for SMARCAL1 Gene
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.