Medical Knowledge Cockpit mody, type ii

GCK

• Glucokinase is an integral component of the insulin granules in glucose-responsive insulin secretory cells and does not translocate during glucose stimulation
• Assessing the potential of glucokinase activators in diabetes therapy

HNF1A

• Molecular regulation of genes encoding xenobiotic-metabolizing enzymes: mechanisms involving endogenous factors

 

HNF1A

Somatic tumors

hepatic adenoma, hepatocellular

Tumor types germline

hepatic adenoma, hepatocellular carcinoma

Cancer Syndrom

familial hepatic adenoma

Translocation partner

Name

HNF1 homeobox A

Chromosome banding

12q24.2

Cancer molecular gen.

Rec

Mutation type

Mis, F

Other syndrome disease

Maturity-onset diabetes of the young, TYPE III

 

HNF1A

The protein encoded by this gene is a transcription factor required for the expression of several liver-specificgenes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result inthe appearance of hepatic adenomas. (provided by RefSeq, Mar 2009)

The protein encoded by this gene is a transcription factor required for the expression of several liver-specificgenes

The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result inthe appearance of hepatic adenomas. (provided by RefSeq, Mar 2009)