ESCO2: Difference between revisions
CSV import Tags: mobile edit mobile web edit |
CSV import Tags: mobile edit mobile web edit |
||
| Line 1: | Line 1: | ||
{{Short description|An article about the ESCO2 gene and its role in human biology}} | |||
== | == ESCO2 == | ||
[[File:ESCO2_location.png|thumb|right|Chromosomal location of the ESCO2 gene]] | |||
'''ESCO2''' is a gene that encodes the establishment of sister chromatid cohesion N-acetyltransferase 2 protein, which is crucial for proper [[chromosome]] segregation during [[cell division]]. This gene is located on the short arm of [[chromosome 8]] at position 21.1. | |||
ESCO2 is | == Function == | ||
The ESCO2 protein is involved in the [[cohesin]] complex, which is essential for the proper alignment and separation of [[sister chromatids]] during [[mitosis]] and [[meiosis]]. The cohesin complex ensures that sister chromatids are held together from the time of their replication in the [[S phase]] until their separation during [[anaphase]]. | |||
== Clinical significance == | == Clinical significance == | ||
Mutations in the ESCO2 gene are associated with [[Roberts syndrome]], a rare genetic disorder characterized by growth retardation, limb malformations, and craniofacial abnormalities. This condition is caused by the failure of proper chromatid cohesion, leading to [[chromosomal instability]]. | |||
== Molecular biology == | |||
The ESCO2 gene is expressed in various tissues, and its protein product is localized to the [[nucleus]] where it acetylates the [[SMC3]] subunit of the cohesin complex. This acetylation is necessary for the establishment of sister chromatid cohesion. | |||
== | == Research == | ||
Ongoing research is focused on understanding the precise molecular mechanisms by which ESCO2 and the cohesin complex regulate chromatid cohesion and how mutations in this gene lead to the phenotypic manifestations of Roberts syndrome. | |||
== Related pages == | |||
* [[Chromosome 8]] | |||
* [[Cohesin]] | |||
* [[Roberts syndrome]] | * [[Roberts syndrome]] | ||
* [[ | * [[Mitosis]] | ||
* [[ | * [[Meiosis]] | ||
[[Category:Genes on human chromosome 8]] | |||
[[Category:Cell cycle proteins]] | |||
[[Category:Genetic disorders]] | |||
Latest revision as of 03:41, 13 February 2025
An article about the ESCO2 gene and its role in human biology
ESCO2[edit]
ESCO2 is a gene that encodes the establishment of sister chromatid cohesion N-acetyltransferase 2 protein, which is crucial for proper chromosome segregation during cell division. This gene is located on the short arm of chromosome 8 at position 21.1.
Function[edit]
The ESCO2 protein is involved in the cohesin complex, which is essential for the proper alignment and separation of sister chromatids during mitosis and meiosis. The cohesin complex ensures that sister chromatids are held together from the time of their replication in the S phase until their separation during anaphase.
Clinical significance[edit]
Mutations in the ESCO2 gene are associated with Roberts syndrome, a rare genetic disorder characterized by growth retardation, limb malformations, and craniofacial abnormalities. This condition is caused by the failure of proper chromatid cohesion, leading to chromosomal instability.
Molecular biology[edit]
The ESCO2 gene is expressed in various tissues, and its protein product is localized to the nucleus where it acetylates the SMC3 subunit of the cohesin complex. This acetylation is necessary for the establishment of sister chromatid cohesion.
Research[edit]
Ongoing research is focused on understanding the precise molecular mechanisms by which ESCO2 and the cohesin complex regulate chromatid cohesion and how mutations in this gene lead to the phenotypic manifestations of Roberts syndrome.
