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IQCB1

IQCB1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the IQCB1 gene?

The official name of this gene is “IQ motif containing B1.”

IQCB1 is the gene's official symbol. The IQCB1 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 IQCB1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Involved in ciliogenesis.

How are changes in the IQCB1 gene related to health conditions?

Genetics Home Reference provides information about Senior-Løken syndrome, which is associated with changes in the IQCB1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the IQCB1 gene's known or predicted involvement in human disease.

Senior-Loken syndrome 5 (SLSN5): A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the IQCB1 gene.
  • Senior-Loken syndrome 5
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the IQCB1 gene and its association with health conditions.
OMIM
Number
Title

Where is the IQCB1 gene located?

Cytogenetic Location: 3q13.33

Molecular Location on chromosome 3: base pairs 121,769,762 to 121,835,078

The IQCB1 gene is located on the long (q) arm of chromosome 3 at position 13.33.

The IQCB1 gene is located on the long (q) arm of chromosome 3 at position 13.33.

More precisely, the IQCB1 gene is located from base pair 121,769,762 to base pair 121,835,078 on chromosome 3.

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

Where can I find additional information about IQCB1?

You and your healthcare professional may find the following resources about IQCB1 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 IQCB1 gene or gene products?

  • NPHP5
  • PIQ
  • SLSN5

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 IQCB1?

alternative splicing ; epithelial ; gene ; IQ ; kidney ; photoreceptor ; protein ; renal ; renal disease ; splicing ; syndrome ; transcript ; wasting

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

See also Understanding Medical Terminology.

 

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.

 
Published: December 16, 2014