The ATP6V1B1 gene provides instructions for making a part (subunit) of a large protein complex known as vacuolar H+-ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) across membranes. Because acids are substances that can “donate” protons to other molecules, this movement of protons helps regulate the relative acidity (pH) of cells and their surrounding environment. Tight control of pH is necessary for most biological reactions to proceed properly.
The V-ATPase that includes the subunit produced from the ATP6V1B1 gene is found in the inner ear and in nephrons, which are the functional structures within the kidneys. The kidneys filter waste products from the blood and remove them in urine. They also reabsorb needed nutrients and release them back into the blood. Each nephron consists of two parts: a renal corpuscle (also known as a glomerulus) that filters the blood, and a renal tubule that reabsorbs substances that are needed and eliminates unneeded substances in urine. The V-ATPase is involved in regulating the amount of acid that is removed from the blood into the urine, and also in maintaining the proper pH of the fluid in the inner ear (endolymph).
Other Names
ATP6B1; ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1; endomembrane proton pump 58 kDa subunit; H(+)-transporting two-sector ATPase, 58kD subunit; H+-ATPase beta 1 subunit; RTA1B; V-ATPase B1 subunit; V-ATPase subunit B 1; V-type proton ATPase subunit B, kidney isoform; vacuolar proton pump 3; vacuolar proton pump subunit B 1; vacuolar proton pump, subunit 3; VATB; VMA2; VPP3
Related Genetics Topics
Identifiers
- NCBI Gene: 525
- OMIM: 192132
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
