Title : A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.

Pub. Date : 2022 Jun 1

PMID : 35506146

2 Functional Relationships(s)
Compound Name
Protein Name
1 In vitro study using HEK293 cells transfected with MC2R wild-type and mutant clones showed a defect in protein expression and cAMP generation when stimulated with ACTH. Cyclic AMP proopiomelanocortin Homo sapiens
2 Conclusion: Homozygous semiconserved p.Leu109Gln mutation disrupts cAMP production and MC2R protein expression leading to ACTH resistance. Cyclic AMP proopiomelanocortin Homo sapiens