|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “Usher syndrome 1C.”
USH1C is the gene's official symbol. The USH1C gene is also known by other names, listed below.
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
Usher syndrome 1C (USH1C): USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. The disease is caused by mutations affecting the gene represented in this entry.
Deafness, autosomal recessive, 18A (DFNB18A): 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.
|276904 (http://omim.org/entry/276904)||USHER SYNDROME, TYPE IC|
|602092 (http://omim.org/entry/602092)||DEAFNESS, AUTOSOMAL RECESSIVE 18A|
|276900 (http://omim.org/entry/276900)||USHER SYNDROME, TYPE I|
|605242 (http://omim.org/entry/605242)||USH1C GENE|
Cytogenetic Location: 11p14.3
Molecular Location on chromosome 11: base pairs 17,493,895 to 17,544,416
The USH1C gene is located on the short (p) arm of chromosome 11 at position 14.3.
More precisely, the USH1C gene is located from base pair 17,493,895 to base pair 17,544,416 on chromosome 11.
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 USH1C 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.
auditory ; autosomal ; autosomal recessive ; cell ; congenital ; degradation ; gene ; hair cells ; isoforms ; protein ; recessive ; retina ; sensorineural ; sensorineural hearing loss ; syndrome ; transcript
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.