| Modification Notes |
Endothelin receptor B (ETBR), also known as EDNRB, ETB, ETRB, HSCR and HSCR2, is a member of the guanine-binding, regulatory protein-coupled receptor family. Three isoforms of ETBR exist called isoform 1, isoform 2 and ∂ 3. ETBR is involved in the regulation of sodium excretion and glomular filtration rate (GFR). ETBR plays a role in the normal development of the neural crest-derived cell lineages, epidermal melanocytes and enteric neurons. ETBR is expressed in lung, kidney, placenta, skeletal muscle and stem villi vessels. Both of the ET receptors, ETAR and ETBR, are activated by ET1, which results in inhibition of active lens sodium-potassium transport. Activation of the ET receptors also causes an increase in cytoplasmic calcium concentration in cultured lens epithelial cells. ETBR deficiency causes early onset dysfunction of the kidney, characterized by reduced sodium excretion, decreased GFR and slightly elevated blood pressure. Mutations in the gene encoding ETBR produce congenital aganglionic megacolon and pigment abnormalities. The multigenic disorder, Hirschsprung’s disease Type 2, is also due to a mutation in the ETBR gene. |
