MLH1
Encyclopedia
MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), also known as MLH1, is a human gene
located on Chromosome 3
. It is a gene
commonly associated with hereditary nonpolyposis colorectal cancer
.
It can also be associated with Turcot syndrome
.
with Exonuclease 1
, MSH4
, PMS2
, Myc
, Bloom syndrome protein
and MBD4
.
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...
located on Chromosome 3
Chromosome 3 (human)
Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs and represents about 6.5 percent of the total DNA in cells....
. It is a 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...
commonly associated with hereditary nonpolyposis colorectal cancer
Hereditary nonpolyposis colorectal cancer
Lynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin...
.
It can also be associated with Turcot syndrome
Turcot syndrome
Mismatch repair cancer syndrome is a condition associated with biallelic DNA mismatch repair mutations. It is also known as Turcot syndrome after Jacques Turcot who described the condition in 1959.-Genetics:...
.
Interactions
MLH1 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with Exonuclease 1
Exonuclease 1
Exonuclease 1 is an enzyme that in humans is encoded by the EXO1 gene.This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity . It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in DNA mismatch repair and...
, MSH4
MSH4
MutS protein homolog 4 is a protein that in humans is encoded by the MSH4 gene.-Interactions:MSH4 has been shown to interact with MLH1, MSH5 and MLH3.-External links:* from the National Institute of Health*...
, PMS2
PMS2
Mismatch repair endonuclease PMS2 is an enzyme that in humans is encoded by the PMS2 gene.-Further reading:-External links:* from the National Institute of Health*...
, Myc
Myc
Myc is a regulator gene that codes for a transcription factor. In the human genome, Myc is located on chromosome 8 and is believed to regulate expression of 15% of all genes through binding on Enhancer Box sequences and recruiting histone acetyltransferases...
, Bloom syndrome protein
Bloom syndrome protein
Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is expressed in Bloom syndrome.The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities...
and MBD4
MBD4
Methyl-CpG-binding domain protein 4 is a protein that in humans is encoded by the MBD4 gene.-Interactions:MBD4 has been shown to interact with MLH1 and FADD.-Further reading:...
.
External links
- FAQs on HNPCC from the National Institute of Health
- GeneReviews/NCBI/NIH/UW entry on Lynch syndrome