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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?
Where is the BSND gene located?
Cytogenetic Location: 1p32.1
Molecular Location on chromosome 1: base pairs 54,998,944 to 55,008,792
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 54,998,944 to base pair 55,008,792 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?
See How are genetic conditions and genes named? in the Handbook.
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.