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Usher syndrome type-3 protein (USH3A, CLRN1)
Compartment: membrane
Alternative splicing:
- named isoforms=2
- additional isoforms seem to exist
Expression:
- widely expressed, including retina
- may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay
Pathology:
- defects in USH3A are the cause of Usher syndrome type 3
Related
CLRN1 gene c.144T>G
General
transmembrane 2 protein
Properties
SIZE: MW = 13 kD
entity length = 120 aa
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-24}
transmembrane domain {25-45}
exoplasmic loop {46-58}
transmembrane domain {59-79}
cytoplasmic domain {80-120}
Database Correlations
OMIM correlations
MORBIDMAP 606397
UniProt P58418
References
- UniProt :accession P58418
- Mutations of the USH3A gene
Retina International's Scientific Newsletter
http://www.retina-international.com/sci-news/ush3mut.htm