RECQL4
Encyclopedia
ATP-dependent DNA helicase Q4 is an enzyme
that in humans is encoded by the RECQL4 gene
.
Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund-Thomson Syndrome
. There are two types of Rothmund Thomson syndrome and it is Type 2 that is caused by patients carrying deleterious mutations in both copies of the RECQL4 gene. This condition is associated with a high risk of developing osteosarcoma
(malignant tumor of the bone).
RECQL4 gets it name from being homologous (sharing sequence) with other members of the RecQ helicase
family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome
is associated with mutations in the BLM gene and Werner syndrome
is associated with mutations in the WRN gene.
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
that in humans is encoded by the RECQL4 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome
Rothmund–Thomson syndrome , also known as poikiloderma atrophicans with cataract or poikiloderma congenitale, is a rare autosomal recessive skin condition originally described by August von Rothmund in 1868. Matthew Sydney Thomson published further descriptions in 1936.There have been several...
. There are two types of Rothmund Thomson syndrome and it is Type 2 that is caused by patients carrying deleterious mutations in both copies of the RECQL4 gene. This condition is associated with a high risk of developing osteosarcoma
Osteosarcoma
Osteosarcoma is an aggressive cancerous neoplasm arising from primitive transformed cells of mesenchymal origin that exhibit osteoblastic differentiation and produce malignant osteoid...
(malignant tumor of the bone).
RECQL4 gets it name from being homologous (sharing sequence) with other members of the RecQ helicase
RecQ helicase
RecQ helicase is a family of helicase enzymes that has been shown to be important in genome maintenance. They function through catalyzing the reaction ATP + H2O → ADP + P and thus driving the unwinding of paired DNA and translocating in the 3' to 5' direction...
family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome
Bloom syndrome
Bloom's syndrome , also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr...
is associated with mutations in the BLM gene and Werner syndrome
Werner syndrome
Werner syndrome is a very rare, autosomal recessive disorder characterized by the appearance of premature aging....
is associated with mutations in the WRN gene.