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PRSS56 protease, serine 56

Also known as: MCOP6

Summary

This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Microphthalmia, isolated 6
MedGen: C3150757OMIM: 613517GeneReviews: Not available
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Genomic context

Location:
2q37.1
Sequence:
Chromosome: 2; NC_000002.12 (232520463..232525716)
Total number of exons:
13

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