GFRA2
Description
The GFRA2 (GDNF family receptor alpha 2) is a protein-coding gene located on chromosome 8.
GFRA2, or GDNF family receptor alpha-2, is a protein encoded by the GFRA2 gene in humans. It is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor, part of the GDNF receptor family. GFRA2 binds to both GDNF and neurturin (NTN), neurotrophic factors crucial for neuron survival and differentiation. It acts as the primary receptor for NTN, mediating the activation of the RET tyrosine kinase receptor. Mutations in this gene are linked to RET-associated diseases.
GFRA2 is a receptor for neurturin, a growth factor vital for the survival of sympathetic neurons. It facilitates the activation of the RET receptor through NRTN-induced autophosphorylation, and can also mediate signaling by GDNF, another neurotrophic factor, through the RET tyrosine kinase receptor.
GFRA2 is also known as GDNFRB, NRTNR-ALPHA, NTNRA, RETL2, TRNR2.
Associated Diseases
- frontotemporal dementia
- recessive aplasia cutis congenita of limbs
- exostoses-anetodermia-brachydactyly type E syndrome
- aplasia cutis congenita
- scalp defects-postaxial polydactyly syndrome
- familial visceral myopathy
