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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.
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]
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.
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.
|610265 (http://omim.org/entry/610265)||DEAFNESS, AUTOSOMAL RECESSIVE 67|
|609427 (http://omim.org/entry/609427)||LHFP-LIKE PROTEIN 5|
Cytogenetic Location: 6p21.31
Molecular Location on chromosome 6: base pairs 35,797,420 to 35,824,075
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.