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

More general terms

• transmembrane 2 protein

Database

• OMIM: https://mirror.omim.org/entry/276902
• OMIM: https://mirror.omim.org/entry/606397
• UniProt: http://www.uniprot.org/uniprot/P58418.html