SMC1A - Revision history

Prab at 15:33, 14 July 2025

2025-07-14T15:33:55Z

← Older revision		Revision as of 15:33, 14 July 2025
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	'''SMC1A''' is a gene that encodes a protein involved in [[chromosome]] structure and [[DNA repair]]. Mutations in this gene are associated with [[Cornelia de Lange syndrome]], a developmental disorder that affects many parts of the body.		'''SMC1A''' is a gene that encodes a protein involved in [[chromosome]] structure and [[DNA repair]]. Mutations in this gene are associated with [[Cornelia de Lange syndrome]], a developmental disorder that affects many parts of the body.
			[[File:Structure of the interface between SMC3 (blue) and SMC1 (green) (PDB 2WD5) from mice (Kurze et al. 2009).png\|Structure of the interface between SMC3 (blue) and SMC1 (green) (PDB 2WD5) from mice (Kurze et al. 2009)\|thumb]]
	== Structure ==		== Structure ==
	The SMC1A gene is located on the [[X chromosome]] (Xp11.22-p11.21). It spans approximately 73 kilobases and comprises 25 [[exon]]s. The encoded protein, SMC1A, is a member of the [[structural maintenance of chromosomes]] (SMC) family of proteins. These proteins form a complex that is essential for chromosome cohesion during [[cell division]].		The SMC1A gene is located on the [[X chromosome]] (Xp11.22-p11.21). It spans approximately 73 kilobases and comprises 25 [[exon]]s. The encoded protein, SMC1A, is a member of the [[structural maintenance of chromosomes]] (SMC) family of proteins. These proteins form a complex that is essential for chromosome cohesion during [[cell division]].
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	* [[Cell division]]		* [[Cell division]]
	* [[DNA repair]]		* [[DNA repair]]

	~~== References ==~~
	~~<references />~~

	[[Category:Genes on human chromosome X]]		[[Category:Genes on human chromosome X]]
	[[Category:DNA repair genes]]		[[Category:DNA repair genes]]
	[[Category:Cell cycle]]		[[Category:Cell cycle]]
	[[Category:Medical genetics]]		[[Category:Medical genetics]]

	{{Genes on human chromosome X}}		{{Genes on human chromosome X}}
	{{DNA repair}}		{{DNA repair}}
	{{Cell cycle}}		{{Cell cycle}}
	{{medicine-stub}}		{{medicine-stub}}
	~~<gallery>~~
	File:Structure of the interface between SMC3 (blue) and SMC1 (green) (PDB 2WD5) from mice (Kurze et al. 2009).png\|Structure of the interface between SMC3 (blue) and SMC1 (green) (PDB 2WD5) from mice (Kurze et al. 2009)
	File:Structure of the interface between SMC1 (blue) and RAD21 (green) (PDB 1W1W) from budding yeast (Haering et al. 2004).png\|Structure of the interface between SMC1 (blue) and RAD21 (green) (PDB 1W1W) from budding yeast (Haering et al. 2004)
	~~</gallery>~~

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2025-03-03T05:13:17Z

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← Older revision		Revision as of 05:13, 3 March 2025
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	{{Cell cycle}}		{{Cell cycle}}
	{{medicine-stub}}		{{medicine-stub}}
			<gallery>
			File:Structure of the interface between SMC3 (blue) and SMC1 (green) (PDB 2WD5) from mice (Kurze et al. 2009).png\|Structure of the interface between SMC3 (blue) and SMC1 (green) (PDB 2WD5) from mice (Kurze et al. 2009)
			File:Structure of the interface between SMC1 (blue) and RAD21 (green) (PDB 1W1W) from budding yeast (Haering et al. 2004).png\|Structure of the interface between SMC1 (blue) and RAD21 (green) (PDB 1W1W) from budding yeast (Haering et al. 2004)
			</gallery>

Prab: CSV import

2024-03-10T12:20:44Z

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'''SMC1A''' is a gene that encodes a protein involved in [[chromosome]] structure and [[DNA repair]]. Mutations in this gene are associated with [[Cornelia de Lange syndrome]], a developmental disorder that affects many parts of the body.

== Structure ==
The SMC1A gene is located on the [[X chromosome]] (Xp11.22-p11.21). It spans approximately 73 kilobases and comprises 25 [[exon]]s. The encoded protein, SMC1A, is a member of the [[structural maintenance of chromosomes]] (SMC) family of proteins. These proteins form a complex that is essential for chromosome cohesion during [[cell division]].

== Function ==
SMC1A is a core component of the [[cohesin]] complex, which is crucial for chromosome segregation during cell division and DNA repair. The cohesin complex holds sister chromatids together until they are separated during [[anaphase]]. SMC1A, along with [[SMC3]], forms a heterodimer that constitutes the core of the cohesin complex. This complex also includes [[RAD21]] and either [[STAG1]] or [[STAG2]].

== Clinical significance ==
Mutations in the SMC1A gene can cause Cornelia de Lange syndrome (CdLS), a rare genetic disorder characterized by slow growth, intellectual disability, and distinctive facial features. Most cases of CdLS are caused by mutations in the [[NIPBL]] gene, but approximately 5% of cases are due to mutations in SMC1A.

== Research ==
Research into the SMC1A gene and its associated proteins continues to provide valuable insights into the mechanisms of chromosome segregation and DNA repair. Understanding these processes is crucial for developing treatments for diseases associated with chromosomal instability, such as [[cancer]].

== See also ==
* [[Structural maintenance of chromosomes]]
* [[Cornelia de Lange syndrome]]
* [[Cohesin]]
* [[Cell division]]
* [[DNA repair]]

== References ==
<references />

[[Category:Genes on human chromosome X]]
[[Category:DNA repair genes]]
[[Category:Cell cycle]]
[[Category:Medical genetics]]

{{Genes on human chromosome X}}
{{DNA repair}}
{{Cell cycle}}
{{medicine-stub}}