Gene Symbol | CPAMD8 |
Entrez Gene ID | 27151 |
Full Name | C3 and PZP like, alpha-2-macroglobulin domain containing 8 |
Synonyms | ASGD8,K-CAP,VIP |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Anterior segment dysgenesis 8, 617319 (3) |