Aliases for CPAMD8 Gene
External Ids for CPAMD8 Gene
Previous GeneCards Identifiers for CPAMD8 Gene
This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]
GeneCards Summary for CPAMD8 Gene
CPAMD8 (C3 And PZP Like, Alpha-2-Macroglobulin Domain Containing 8) is a Protein Coding gene. Diseases associated with CPAMD8 include Anterior Segment Dysgenesis 8 and Iris Hypoplasia. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity. An important paralog of this gene is CD109.