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- SMARCAL1 abstract "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 is a protein that in humans is encoded by the 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 SMARCAL1 protein convert RPA-bound, single stranded DNA into double-stranded DNA, an enzyme activity termed "annealing helicase".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.".
- SMARCAL1 entrezgene "50485".
- SMARCAL1 wikiPageExternalLink br.fcgi?book=gene&part=siod.
- SMARCAL1 wikiPageID "15347411".
- SMARCAL1 wikiPageRevisionID "593063456".
- SMARCAL1 hasPhotoCollection SMARCAL1.
- SMARCAL1 requireManualInspection "no".
- SMARCAL1 summaryText "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 SMARCAL1 protein convert RPA-bound, single stranded DNA into double-stranded DNA, an enzyme activity termed "annealing helicase". 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 , an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.".
- SMARCAL1 updateCitations "yes".
- SMARCAL1 updatePage "yes".
- SMARCAL1 updateProteinBox "yes".
- SMARCAL1 updateSummary "no".
- SMARCAL1 subject Category:Genes_mutated_in_mice.
- SMARCAL1 type Biomolecule.
- SMARCAL1 type Protein.
- SMARCAL1 type BiologicalObject.
- SMARCAL1 comment "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 is a protein that in humans is encoded by the 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.".
- SMARCAL1 label "SMARCAL1".
- SMARCAL1 sameAs m.03m5st_.
- SMARCAL1 sameAs Q7391051.
- SMARCAL1 sameAs Q7391051.
- SMARCAL1 sameAs SMARCAL1.
- SMARCAL1 wasDerivedFrom SMARCAL1?oldid=593063456.
- SMARCAL1 isPrimaryTopicOf SMARCAL1.