SMARCAL1 Gene

The SMARCAL1 gene (SMARCAL1 stands for "SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1") is a protein coding gene located on chromosome 2q35.

The protein encoded by the SMARCAL1 gene is a member of the SWI/SNF protein family. Members of this family have helicase and ATPase activities and are thought to regulate the transcription of certain genes by altering the chromatin structure around these genes. The encoded protein has sequence similarity to the E. coli RNA polymerase-binding protein HepA.

The encoded enzyme acts throughout the genome to stably relink 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.

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, and atrioventricular septal defect (Spranger J et al 1991).

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