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LHFPL5

LHFPL5

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

What is the official name of the LHFPL5 gene?

The official name of this gene is “lipoma HMGIC fusion partner-like 5.”

LHFPL5 is the gene's official symbol. The LHFPL5 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 LHFPL5 gene?

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

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]

From UniProt (TMHS_HUMAN)This link leads to a site outside Genetics Home Reference.:

In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation.

How are changes in the LHFPL5 gene related to health conditions?

Genetics Home Reference provides information about nonsyndromic hearing loss, which is associated with changes in the LHFPL5 gene.
UniProt (TMHS_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the LHFPL5 gene's known or predicted involvement in human disease.

Deafness, autosomal recessive, 67 (DFNB67): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 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 LHFPL5 gene.
  • Deafness, autosomal recessive 67
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 LHFPL5 gene and its association with health conditions.
OMIM
Number
Title

Where is the LHFPL5 gene located?

Cytogenetic Location: 6p21.31

Molecular Location on chromosome 6: base pairs 35,797,420 to 35,824,075

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The LHFPL5 gene is located on the short (p) arm of chromosome 6 at position 21.31.

The LHFPL5 gene is located on the short (p) arm of chromosome 6 at position 21.31.

More precisely, the LHFPL5 gene is located from base pair 35,797,420 to base pair 35,824,075 on chromosome 6.

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

Where can I find additional information about LHFPL5?

You and your healthcare professional may find the following resources about LHFPL5 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 LHFPL5 gene or gene products?

  • DFNB67
  • dJ510O8.8
  • TMHS

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 LHFPL5?

adaptation ; autosomal ; autosomal recessive ; cell ; channel ; gene ; mutation ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; transduction ; transmembrane

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: February 8, 2016