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Reviewed March 2014

What is the official name of the ATP6V1B1 gene?

The official name of this gene is “ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1.”

ATP6V1B1 is the gene's official symbol. The ATP6V1B1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ATP6V1B1 gene?

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).

Does the ATP6V1B1 gene share characteristics with other genes?

The ATP6V1B1 gene belongs to a family of genes called ATP (ATPases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the ATP6V1B1 gene related to health conditions?

renal tubular acidosis with deafness - caused by mutations in the ATP6V1B1 gene

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.

Where is the ATP6V1B1 gene located?

Cytogenetic Location: 2p13.1

Molecular Location on chromosome 2: base pairs 70,935,867 to 70,965,430

The ATP6V1B1 gene is located on the short (p) arm of chromosome 2 at position 13.1.

The ATP6V1B1 gene is located on the short (p) arm of chromosome 2 at position 13.1.

More precisely, the ATP6V1B1 gene is located from base pair 70,935,867 to base pair 70,965,430 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ATP6V1B1?

You and your healthcare professional may find the following resources about ATP6V1B1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ATP6V1B1 gene or gene products?

  • ATP6B1
  • endomembrane proton pump 58 kDa subunit
  • H+-ATPase beta 1 subunit
  • H(+)-transporting two-sector ATPase, 58kD subunit
  • RTA1B
  • vacuolar proton pump 3
  • vacuolar proton pump, subunit 3
  • vacuolar proton pump subunit B 1
  • VATB
  • V-ATPase B1 subunit
  • V-ATPase subunit B 1
  • VMA2
  • VPP3
  • V-type proton ATPase subunit B, kidney isoform

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ATP6V1B1?

acidity ; acidosis ; acids ; gene ; glomerulus ; kidney ; pH ; protein ; proton ; renal ; sensorineural ; sensorineural hearing loss ; subunit

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: March 2014
Published: March 30, 2015