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.
SMARCAL1 Gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
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.
Clinical pictureThis section has been translated automatically.
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).
LiteratureThis section has been translated automatically.
- Baradaran-Heravi A et al (2008) Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. Am J Med Genet 146A: 2013-2017.
- Boerkoel CF et al (2000) Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Europ J Pediat 159: 1-7.
- Clewing JM et al (2007) Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet 44: 122-130.
- Ehrich JHH et al (1990) Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. Pediat Nephrol 4: 117-121.
- Hashimoto K et al (1994) Juvenile variant of Schimke immunoosseous dysplasia. Am J Med Genet 49: 266-269.
- Schimke RN et al (1974) Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome. Birth Defects Orig Art Ser X(12): 258-266.
- Spranger J et al (1991) Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediat 119: 64-72.