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FLASH GENE

Symbol

MLH1

contributors: mct - updated : 15-09-2016

HGNC name	mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
HGNC id	7127

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HNPCC2 , MTS2 , CMMRD

related resource

InternationalGrouponHereditaryNon-PolyposisColorectalCancer

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in colon and uterus tumor tumoral germinal mutation       in the 3'-untranslated region (3'-UTR) leads to DNA mismatch repair deficiency, conferring leukemia relapse tumoral   deletion     in early and late-onset breast carcinoma tumoral     --low   by promoter methylation, associated with poor prognosis in non-small cell lung carcinoma

Susceptibility

to inflammatory bowel disease (Crohn, ulcerative colitis) to prostate cancer

Variant & Polymorphism other	a protective role for the codon 384 variant allele against prostate cancer
	rare genetic variants that confer a high risk of prostate cancer when mutated

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS