Gene: SMARCAL1

Alternate names for this Gene: HARP|HHARP

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

Type of Gene: protein-coding

rs13411858 in SMARCAL1 gene and Intelligence PMID 29520040 2019 Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.

rs11686241 in SMARCAL1 gene and Malignant Neoplasms PMID 29299148 2017 Cancer risk susceptibility loci in a Swedish population.

rs119473033 in SMARCAL1 gene and Nephrotic Syndrome PMID 11799392 2002 Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

PMID 18805831 2009 Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

PMID 24589093 2014 A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).

rs119473033 in SMARCAL1 gene and Schimke immunoosseous dysplasia PMID 22998683 2012 Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

PMID 11799392 2002 Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

PMID 21914180 2011 Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.

PMID 28796785 2017 Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

PMID 16840568 2007 Schimke immuno-osseous dysplasia: a clinicopathological correlation.

PMID 17089404 2007 Schimke immunoosseous dysplasia: suggestions of genetic diversity.

PMID 26499378 2015 Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

PMID 15880370 2005 Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.

PMID 19127206 2009 SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.

PMID 18805831 2009 Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

PMID 24589093 2014 A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).

PMID 25748404 2015 [SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].

PMID 18974355 2008 HARP is an ATP-driven annealing helicase.

PMID 19793862 2009 The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart.

PMID 26089390 2015 Smarcal1 promotes double-strand-break repair by nonhomologous end-joining.

PMID 23671665 2013 Identification and characterization of SMARCAL1 protein complexes.

PMID 19793864 2009 The annealing helicase HARP protects stalled replication forks.