Reviewed November 2006
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.
What is the normal function of the LHFPL5 gene?
The LHFPL5 gene (also called TMHS) provides instructions for making a protein called LHFP-like protein 5. The specific role of this protein is unknown. Researchers suggest that LHFP-like protein 5 is important for the normal function of the inner ear and the hearing process. Hearing requires the conversion of sound waves to nerve impulses that are transmitted via the auditory nerve to the brain. LHFP-like protein 5 may play a role in this conversion process. Studies indicate that this protein may help in the formation of stereocilia, the hairlike structures that project from specialized cells called hair cells. Stereocilia line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses.
How are changes in the LHFPL5 gene related to health conditions?
- nonsyndromic deafness - caused by mutations in the LHFPL5 gene
Researchers have identified a few mutations in the LHFPL5 gene that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB67. Some of these mutations introduce a premature stop signal in the instructions for making LHFP-like protein 5. As a result, scientists believe that no protein is produced, or an abnormally small and nonfunctional protein is made. Other mutations replace one of the protein building blocks (amino acids) used to make LHFP-like protein 5 with an incorrect amino acid. It is unclear how LHFPL5 gene mutations cause hearing loss.
Where is the LHFPL5 gene located?
Cytogenetic Location: 6p21.31
Molecular Location on chromosome 6: base pairs 35,805,293 to 35,824,074
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 35,805,293 to base pair 35,824,074 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about LHFPL5?
You and your healthcare professional may find the following resources about LHFPL5 helpful.
Educational resources - Information pages
- Biochemistry (5th edition, 2002): Hearing Depends on the Speedy Detection of Mechanical Stimuli (http://www.ncbi.nlm.nih.gov/books/NBK22542/)
- Harvard Medical School Center for Hereditary Deafness (http://hearing.harvard.edu/)
- Neuroscience (2nd edition, 2001): Hair Cells and the Mechanoelectrical Transduction of Sound Waves (http://www.ncbi.nlm.nih.gov/books/NBK10867/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for LHFPL5 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=222662%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28LHFPL5%5BTIAB%5D%29%20OR%20%28lipoma%20HMGIC%20fusion%20partner-like%205%5BTIAB%5D%29%29%20OR%20%28%28TMHS%5BTIAB%5D%29%20OR%20%28DFNB67%5BTIAB%5D%29%20OR%20%28LHFP-like%20protein%205%5BTIAB%5D%29%20OR%20%28deafness,%20autosomal%20recessive%2067%5BTIAB%5D%29%20OR%20%28tetraspan%20membrane%20protein%20of%20hair%20cell%20stereocilia%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/609427)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=222662)
- Hereditary Hearing Loss Homepage (http://hereditaryhearingloss.org/)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=21253)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/222662)
What other names do people use for the LHFPL5 gene or gene products?
- LHFP-like protein 5
- tetraspan membrane protein of hair cell stereocilia
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding LHFPL5?
amino acid ;
auditory nerve ;
autosomal recessive ;
hair cells ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2006 Jul;27(7):633-9. (http://www.ncbi.nlm.nih.gov/pubmed/16752389?dopt=Abstract)
- OMIM: LHFP-LIKE PROTEIN 5 (http://omim.org/entry/609427)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/222662)
- Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S. Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. J Med Genet. 2006 Aug;43(8):634-40. Epub 2006 Feb 3. (http://www.ncbi.nlm.nih.gov/pubmed/16459341?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.