SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A-Like 1), also known as HARP, is an ATP-dependent annealing helicase that stabilizes replication forks during DNA damage. Mutations in this gene are the cause of Schimke immune-osseous dysplasia (SIOD), an autosomal recessive disorder characterized by T-cell immunodeficiency and growth dysfunctions. In this review, we summarize the main roles of SMARCAL1 in DNA repair, telomere maintenance and replication fork stability in response to DNA replication stress.
SMARCAL1 ( SWI / SNF Related , Matrix Associated , Actin Dependent Regulator Of Chromatin , Subfamily A - Like 1 ) , also known as HARP , is an ATP - dependent annealing helicase that stabilizes replication forks during DNA damage . Mutations in this gene are the cause of Schimke immune - osseous dysplasia ( SIOD ) , an autosomal recessive disorder characterized by T - cell immunodeficiency and growth dysfunctions . In this review , we summarize the main roles of SMARCAL1 in DNA repair , telomere maintenance and replication fork stability in response to DNA replication stress .
Mutations in which gene cause Schimke immune-osseous dysplasia?
Mutations in which gene cause Schimke immune - osseous dysplasia ?
SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A-Like 1) HARP
SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A-Like 1) HARP