MUTYH Gene

Definition: mutY homolog (E. coli)

Official Symbol:MUTYH

Chromosome:1

Location : 1p34.3-p32.1

Gene Size: 11229 bp complement(45567501..45578729)


No Exons:16

Description:
MUTYH gene encodes a MYH glycosylase which is involved in oxidative DNA damage repair,The enzyme corrects mistakes in DNA ,which occur during DNA replication (during cell division),During cell division Guanine(G) sometimes becomes altered by oxygen and gets paired with Adenine(A),M instead of cytosine (C) MYH glycosylase fixes this mistake so mutations do not accumulate in the DNA and lead to tumor formation,This type of repair is known as base excision repair.



Disease :
familial adenomatous polyposis - caused by mutations in the MUTYH gene

Mutations in the MUTYH gene cause an autosomal recessive form of familial adenomatous polyposis (also called MYH-associated polyposis). Mutations in this gene affect the ability of cells to correct mistakes made during DNA replication. In individuals who have autosomal recessive familial adenomatous polyposis, both copies of the MUTYH gene in each cell are mutated. Most mutations in this gene result in the production of a nonfunctional or low-functioning MYH glycosylase. When base excision repair in the cell is impaired, mutations in other genes build up, leading to cell overgrowth and possibly tumor formation. Two mutations that change the sequence of the building blocks of proteins (amino acids) in MYH glycosylase are common in people of European descent. One mutation replaces the amino acid tyrosine with the amino acid cysteine at position 165 (written as Tyr165Cys or Y165C). The other mutation switches the amino acid glycine with the amino acid aspartic acid at position 382 (written as Gly382Asp or G382D).