RGD Reference Report - Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. - Rat Genome Database

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Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

Authors: Eudy, JD  Weston, MD  Yao, S  Hoover, DM  Rehm, HL  Ma-Edmonds, M  Yan, D  Ahmad, I  Cheng, JJ  Ayuso, C  Cremers, C  Davenport, S  Moller, C  Talmadge, CB  Beisel, KW  Tamayo, M  Morton, CC  Swaroop, A  Kimberling, WJ  Sumegi, J 
Citation: Eudy JD, etal., Science. 1998 Jun 12;280(5370):1753-7.
RGD ID: 8547987
Pubmed: PMID:9624053   (View Abstract at PubMed)

Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Usher syndrome type 2A susceptibilityIAGP 8547987DNA:frameshift mutations:cds:c.2314delG more ...RGD 
Usher syndrome type 2A susceptibilityISOUSH2A (Homo sapiens)8547987; 8547987DNA:frameshift mutations:cds:c.2314delG more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ush2a  (usherin)

Genes (Mus musculus)
Ush2a  (usherin)

Genes (Homo sapiens)
USH2A  (usherin)


Additional Information