Immunoglobulin superfamily member 1 (IGSF1)

Immunoglobulin superfamily member 1 is a plasma membrane glycoprotein encoded by the IGSF1 gene on the human X chromosome[2]. This protein contains multiple immunoglobulin-like domains and is a member of the large immunoglobulin superfamily, which is characterized by cell-surface and soluble proteins involved in recognition, binding, or adhesion of cells[8]. Functionally, IGSF1 is thought to act as a coreceptor in inhibin signaling, although it is not a high-affinity inhibin receptor, and may antagonize activin A signaling in some contexts[7]. The protein is mainly expressed in the pituitary gland and brain and is crucial for normal endocrine function, especially in regulating thyroid-stimulating hormone (TSH) secretion. Mutations in IGSF1 disrupt trafficking and function of the protein, resulting in central hypothyroidism, testicular enlargement, and delayed puberty in males. Females are rarely clinically affected. There is currently no direct drug targeting IGSF1, but its deficiency is a key biomarker for the diagnosis and management of congenital central hypothyroidism[2][4][5][7].

Other names

IGSF1Immunoglobulin-like family member 1