ATP6V1B1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/atp6v1b1

ATPase H+ transporting V1 subunit B1

genes

1. Normal Function

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).

2. Health Conditions Related to Genetic Changes

2.1. Renal Tubular Acidosis with Deafness

More than 25 ATP6V1B1 gene mutations have been identified in people with renal tubular acidosis with deafness, a disorder involving excess acid in the blood (metabolic acidosis), bone weakness, and hearing loss caused by changes in the inner ear (sensorineural hearing loss).

Mutations in the ATP6V1B1 gene impair the function of the V-ATPase proton pump. As a result, the kidneys are less able to control the acidity of the blood, which leads to bone weakness caused by loss of bone minerals (demineralization) and other consequences of metabolic acidosis. The body's capability to control the pH of the fluid in the inner ear is also impaired, resulting in sensorineural hearing loss.

3. Other Names for This Gene

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

References

Alper SL. Familial renal tubular acidosis. J Nephrol. 2010 Nov-Dec;23 Suppl16:S57-76. Review.
Andreucci E, Bianchi B, Carboni I, Lavoratti G, Mortilla M, Fonda C, BigozziM, Genuardi M, Giglio S, Pela I. Inner ear abnormalities in four patients withdRTA and SNHL: clinical and genetic heterogeneity. Pediatr Nephrol. 2009Nov;24(11):2147-53. doi: 10.1007/s00467-009-1261-3.
Batlle D, Haque SK. Genetic causes and mechanisms of distal renal tubularacidosis. Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi:10.1093/ndt/gfs442. Review.
Gil H, Santos F, García E, Alvarez MV, Ordóñez FA, Málaga S, Coto E. DistalRTA with nerve deafness: clinical spectrum and mutational analysis in fivechildren. Pediatr Nephrol. 2007 Jun;22(6):825-8.
Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, WüthrichRP, Wagner CA. Homozygous and compound heterozygous mutations in the ATP6V1B1gene in patients with renal tubular acidosis and sensorineural hearing loss. ClinGenet. 2013 Mar;83(3):274-8. doi: 10.1111/j.1399-0004.2012.01891.x.
Nikali K, Vanegas JJ, Burley MW, Martinez J, Lopez LM, Bedoya G, Wrong OM,Povey S, Unwin RJ, Ruiz-Linares A. Extensive founder effect for distal renaltubular acidosis (dRTA) with sensorineural deafness in an isolated South Americanpopulation. Am J Med Genet A. 2008 Oct 15;146A(20):2709-12. doi:10.1002/ajmg.a.32495.
Sethi SK, Singh N, Gil H, Bagga A. Genetic studies in a family with distalrenal tubular acidosis and sensorineural deafness. Indian Pediatr. 2009May;46(5):425-7.
Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB,Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A,Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, MirS, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations inautosomal recessive distal renal tubular acidosis with new evidence for hearingloss. J Med Genet. 2002 Nov;39(11):796-803.

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Subjects: Genetics & Heredity

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Vicky Zhou

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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