Mutations in<unk>  products are associated with: * Albright hereditary osteodystrophy * pseudohypoparathyroidism type Ia and Ib * pseudopseudohypoparathyroidism *McCune–Albright syndrome * Myxoma Mutations in this gene also result in progressive osseous heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. Mutations in the repeat region of the XL exon leads to a hyperactive form of XLas due to lowered interaction with ALEX. As XLas is expressed in platelets, the risk of bleeding is elevated. Many alleles in mice have been constructed for analyzing disease associations. Mice with this gene half knocked-out and half-mutated (tm1Jop/Oedsml) display increased heart weight, increased startle reflex, and abnormalities in bone structure and mineralization; some other alternations can be lethal. Metabolic problems resembling pseudohypoparathyroidism are seen in heterozygous mutated (wt/Oedsml) mice. Knocking out the antisense transcript is known to, at minimum, cause methylation defects.
GNAS complex locus
AVP gene
Y chromosome
Satellite chromosome
Merosome
Sex chromosome
X chromosome
Mir-3180 microRNA precursor family