SMARCAL1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1, also known as SMARCAL1, is a human gene.cite web | title = Entrez Gene: SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50485| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50485| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Muthuswami R, Truman PA, Mesner LD, Hockensmith JW |title=A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements. |journal=J. Biol. Chem. |volume=275 |issue= 11 |pages= 7648–55 |year= 2000 |pmid= 10713074 |doi=
*cite journal | author=Coleman MA, Eisen JA, Mohrenweiser HW |title=Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse. |journal=Genomics |volume=65 |issue= 3 |pages= 274–82 |year= 2000 |pmid= 10857751 |doi= 10.1006/geno.2000.6174
*cite journal | author=Boerkoel CF, Takashima H, John J, "et al." |title=Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. |journal=Nat. Genet. |volume=30 |issue= 2 |pages= 215–20 |year= 2002 |pmid= 11799392 |doi= 10.1038/ng821
*cite journal | author=Lou S, Lamfers P, McGuire N, Boerkoel CF |title=Longevity in Schimke immuno-osseous dysplasia. |journal=J. Med. Genet. |volume=39 |issue= 12 |pages= 922–5 |year= 2003 |pmid= 12471207 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Bökenkamp A, deJong M, van Wijk JA, "et al." |title=R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. |journal=Pediatr. Nephrol. |volume=20 |issue= 12 |pages= 1724–8 |year= 2006 |pmid= 16237566 |doi= 10.1007/s00467-005-2047-x
*cite journal | author=Clewing JM, Antalfy BC, Lücke T, "et al." |title=Schimke immuno-osseous dysplasia: a clinicopathological correlation. |journal=J. Med. Genet. |volume=44 |issue= 2 |pages= 122–30 |year= 2007 |pmid= 16840568 |doi= 10.1136/jmg.2006.044313

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