GPR101: Modeling a constitutively active receptor linked to X-linked acrogigantism.

ABSTRACT: GPR101 is a G protein-coupled receptor (GPCR) implicated in a rare form of genetic gigantism known as X-linked acrogigantism, or X-LAG. In particular, X-LAG patients harbor microduplications in the long arm of the X-chromosome that invariably include the GPR101 gene. Duplications of the GPR101 gene lead to the formation of a new chromatin domain that causes over-expression of the receptor in the pituitary tumors of the patients. Notably, GPR101 is a constitutively active receptor, which stimulates cells to produce the second messenger cyclic AMP (cAMP) in the absence of ligands. Moreover, GPR101 was recently reported to constitutively activate not only the cAMP pathway via G_s, but also other G protein subunits (G_q/11 and G_12/13). Hence, chemicals that block

SUBMITTER: Costanzi S 

PROVIDER: S-EPMC10843723 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature