Thyrotropin subunit beta
Function
Indispensable for the control of thyroid structure and metabolism.
Involvement in disease
Hypothyroidism, congenital, non-goitrous, 4
CHNG4
A form of central hypothyroidism, a disorder characterized by insufficient stimulation by thyroid stimulating hormone of an otherwise normal thyroid gland. CHNG4 is an autosomal recessive form characterized by isolated thyrotropin deficiency that, if untreated, results in severe growth retardation and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the glycoprotein hormones subunit beta family.
Cellular localization
- Secreted
Alternative names
Thyrotropin subunit beta, Thyroid-stimulating hormone subunit beta, Thyrotropin beta chain, TSH-B, TSH-beta, TSHB