RecQL4
Cancer Terms ->
Gene Product ->
Protein ->
Protein Organized by Function ->
Enzyme ->
Hydrolase ->
Helicase ->
DNA Helicase ->
RecQ Helicase Family Protein -> RecQL4
RecQL4 Definition
Mutations of the RecQL4 gene have been identified in a limited number of patients with Rothmund-Thomson syndrome (RTS), a rare autosomal recessive genetic disorder that shows chromosomal instability, premature aging, and a high risk of mesenchymal tumors. The 13.3 kD RecQL4 protein belongs to the RecQ subfamily of helicases and contains an helicase domain with a potential ATP binding site, and the DEAH box. The RecQ4 gene is predominantly expressed in thymus and testis and at low levels in other organs such as heart, brain, placenta, pancreas, small intestine, and colon, indicating that the expression of RecQ4 gene is somewhat tissue-specific. The expression of RecQ4 gene is partially upregulated in the G1/S phase of cell cycle. RecQL4 functionally suppresses promiscuous genetic recombination and ensures accurate chromosome segregation. (Beghini A. RECQL4. Atlas Genet Cytogenet Oncol Haematol. October 2001.
RecQL4 Synonyms
RecQL4, ATP-Dependent DNA Helicase Q4, RECQ4, RTS, RecQ Protein Like 4
Terms in RecQL4 category
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