The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts.

ABSTRACT: The currently estimated number of genes in the human genome is much smaller than previously predicted. As an explanation for this disparity, most individual genes have multiple transcriptional units that represent a variety of biologically important gene products. GNAS exemplifies a gene of such complexity. One of its products is the alpha-subunit of the stimulatory heterotrimeric G protein (Gsalpha), a ubiquitous signaling protein essential for numerous different cellular responses. Loss-of-function and gain-of-function mutations within Gsalpha-coding GNAS exons are found in various human disorders, including Albright's hereditary osteodystrophy, pseudohypoparathyroidism, fibrous dysplasia of bone, and some tumors of different origin. While Gsalpha expression in most tissues is biallelic,

SUBMITTER: Bastepe M 

PROVIDER: S-EPMC2671723 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature