Disease-gene associations mined from literature

Literature associating GPHA2 and salt and pepper syndrome

GPHA2 [ENSP00000279168]

Putative secreted protein Zsig51; Functions as a heterodimeric glycoprotein hormone with GPHB5 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism; Belongs to the glycoprotein hormones subunit alpha family.

Synonyms:  GPHA2,  GPHA2p,  hGPHA2,  A0A024R579,  E9PLQ0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM