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OCLN

OCLN

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

What is the official name of the OCLN gene?

The official name of this gene is “occludin.”

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

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

This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]

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

May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions.

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

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the OCLN gene's known or predicted involvement in human disease.

Band-like calcification with simplified gyration and polymicrogyria (BLCPMG): A neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay. 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 OCLN gene.
  • Band-like calcification with simplified gyration and polymicrogyria
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 OCLN gene and its association with health conditions.
OMIM
Number
Title

Where is the OCLN gene located?

Cytogenetic Location: 5q13.1

Molecular Location on chromosome 5: base pairs 69,492,291 to 69,558,103

The OCLN gene is located on the long (q) arm of chromosome 5 at position 13.1.

The OCLN gene is located on the long (q) arm of chromosome 5 at position 13.1.

More precisely, the OCLN gene is located from base pair 69,492,291 to base pair 69,558,103 on chromosome 5.

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

Where can I find additional information about OCLN?

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

  • BLCPMG
  • PPP1R115

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 OCLN?

alternative splicing ; autosomal ; autosomal recessive ; calcification ; chromosome ; congenital ; cytokine ; developmental delay ; expressed ; gene ; infection ; Mb ; microcephaly ; neurologic ; permeability ; protein ; pseudogene ; recessive ; splicing ; syndrome ; tight junctions ; transcript

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: January 19, 2015