cochlin; COCH-5B2 (COCH, COCH5B2, UNQ257/PRO294)

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Function

50 kD form is created by proteolytic cleavage
interacts with SLC44A2

Structure

N-glycosylated
contains 1 LCCL domain
contains 2 VWFA domains

Compartment

secreted, extracellular space, extracellular matrix

Expression

expressed in inner ear structures; the cochlea & the vestibule

Pathology

defects in COCH are the cause of autosomal dominant sensorineural deafness type 9

More general terms

References

↑ UniProt http://www.uniprot.org/uniprot/O43405.html
↑ Protein Spotlight; the Japanese Horseshoe Crab & Deafness - Issue 4 of November 2000 http://www.expasy.org/spotlight/back_issues/sptlt004.shtml
↑ Hereditary hearing loss homepage; Note: gene page http://webhost.ua.ac.be/hhh/
↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COCH
↑ SeattleSNPs http://pga.gs.washington.edu/data/coch/

Database

Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1690
Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1690
OMIM: https://mirror.omim.org/entry/601369
OMIM: https://mirror.omim.org/entry/603196
UniProt: http://www.uniprot.org/uniprot/O43405.html

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