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BSND

BSND

Reviewed February 2011

What is the official name of the BSND gene?

The official name of this gene is “barttin CLCNK-type chloride channel accessory beta subunit.”

BSND is the gene's official symbol. The BSND 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 BSND gene?

The BSND gene provides instructions for making a protein called barttin. This protein is found primarily in the kidneys, where it attaches (binds) to two specific chloride channels: ClC-Ka (produced from the CLCNKA gene) and ClC-Kb (produced from the CLCNKB gene). The ClC-Ka and ClC-Kb channels transport charged atoms of chlorine (chloride ions) out of kidney cells.

Barttin is essential for the normal placement of ClC-Ka and ClC-Kb channels in the cell membrane. It also regulates the channels' stability and function. The transport of chloride ions is part of the mechanism by which the kidneys reabsorb salt (sodium chloride or NaCl) from the urine back into the bloodstream. The retention of salt affects the body's fluid levels and helps maintain blood pressure.

Barttin, ClC-Ka, and ClC-Kb are also found in the inner ear, where they play a role in normal hearing.

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

Bartter syndrome - caused by mutations in the BSND gene

More than a dozen mutations in the BSND gene have been identified in people with Bartter syndrome type IV. This form of the disorder causes severe or life-threatening health problems that become apparent before or soon after birth. Affected individuals also have hearing loss caused by abnormalities in the inner ear, which is why Bartter syndrome type IV is also known as antenatal Bartter syndrome with sensorineural deafness.

BSND gene mutations impair barttin's ability to regulate the ClC-Ka and ClC-Kb channels. Some mutations keep the channels from ever reaching the cell membrane. Other mutations allow the channels to reach the cell membrane but prevent them from transporting ions properly. As a result, the kidneys cannot reabsorb salt normally and excess salt is lost through the urine (salt wasting). The abnormal salt loss disrupts the normal balance of ions in the body. This imbalance underlies many of the major features of Bartter syndrome, including a failure to grow and gain weight at the expected rate (failure to thrive), dehydration, constipation, and increased urine production (polyuria). A loss of ClC-Ka and ClC-Kb function in the inner ear is responsible for the hearing loss characteristic of Bartter syndrome type IV.

Where is the BSND gene located?

Cytogenetic Location: 1p32.1

Molecular Location on chromosome 1: base pairs 54,998,943 to 55,008,791

The BSND gene is located on the short (p) arm of chromosome 1 at position 32.1.

The BSND gene is located on the short (p) arm of chromosome 1 at position 32.1.

More precisely, the BSND gene is located from base pair 54,998,943 to base pair 55,008,791 on chromosome 1.

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

Where can I find additional information about BSND?

You and your healthcare professional may find the following resources about BSND 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 BSND gene or gene products?

  • BART
  • Bartter syndrome, infantile, with sensorineural deafness (Barttin)
  • barttin
  • BSND_HUMAN
  • deafness, autosomal recessive 73
  • DFNB73

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 BSND?

autosomal ; autosomal recessive ; cell ; cell membrane ; channel ; chloride ; chloride channels ; constipation ; dehydration ; failure to thrive ; gene ; ions ; kb ; kidney ; NaCl ; polyuria ; protein ; recessive ; sensorineural ; sodium ; sodium chloride ; subunit ; syndrome ; wasting

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

See also Understanding Medical Terminology.

References (9 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: February 2011
Published: June 29, 2015