Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is a major cause of deafblindness and is at present incurable.
Ephrin B1 is a protein that in humans is encoded by the EFNB1 gene. It is a member of the ephrin family. The encoded protein is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system.
Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog , also known as CDC73 and parafibromin, is a protein which in humans is encoded by the CDC73 gene.
Usherin is a protein that in humans is encoded by the USH2A gene.
Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.
Harmonin is a protein that in humans is encoded by the USH1C gene. It is expressed in sensory cells of the inner ear and retina, where it plays a role in hearing, balance, and vision. Mutations at the USH1C locus cause Usher syndrome type 1c and nonsyndromic sensorineural deafness.
Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.
Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.
ADGRV1, also known as G protein-coupled receptor 98 (GPR98) or Very Large G-protein coupled receptor 1 (VLGR1), is a protein that in humans is encoded by the GPR98 gene. Several alternatively spliced transcripts have been described.
Probable G-protein coupled receptor 171 is a protein that in humans is encoded by the GPR171 gene.
Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.
Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.
Whirlin is a protein that in humans is encoded by the DFNB31 gene.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.
Inversin is a protein that in humans is encoded by the INVS gene.
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.
Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.
Myosin-XV is a protein that in humans is encoded by the MYO15A gene.
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
