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FLASH GENE

Symbol

UGT1A1

contributors: SGE/pgu - updated : 07-05-2010

HGNC name	UDP glycosyltransferase 1 family, polypeptide A1
HGNC id	12530

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CNS1 , GBTS , CNS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in endometrial cancer

Susceptibility

to bladder cancer

Variant & Polymorphism repeat	UGT1A1*28 genotype and male gender predict an increased incidence of liver functional test abnormalities during pegvisomant therapy in acromegaly
	patients carrying UGT1A1 *28 allele(s) are at an increased risk of irinotecan-induced severe diarrhoea
	UGT1A1*1 polymorphism, which results in lower serum levels of the endogenous antioxidant bilirubin, was associated with an increased risk of head and neck cancer
	UGT1A1 A(TA)(7)TAA allele is a potential risk factor for breast cancer in Caucasians
	the c.-3279T>G mutation in the UGT1A1 promoter is a genetic risk factor for neonatal jaundice
	rs6742078 variant explains 18percent of the variation in total of serum bilirubin levels

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed digestive liver   variation of glucuronidation in patients with Gilbert Syndrome impacts drug therapy, particularly with drugs that have a narrow therapeutic spectrum

ANIMAL & CELL MODELS