CPAMD8
Developmental stage
Expressed early in development of the eye (week 9 to week 22 of gestation).
Involvement in disease
Anterior segment dysgenesis 8
ASGD8
A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and lens abnormalities, in the absence of retinal abnormalities or extra-ocular features. ASGD8 transmission pattern is consistent with autosomal recessive inheritance.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Proteolytically cleaved into 2 chains of about 70 and 130 kDa. The fragments are not connected by disulfide bonds.
Sequence Similarities
Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family.
Tissue Specificity
Highly expressed in the kidney, brain and testis and to a lower extent in heart, liver and small intestine (PubMed:15177561). Expressed in the lens, cornea and retina. Strongly expressed in the distal tips of the retinal neuroepithelium that form the iris and ciliary body (PubMed:27839872).
Cellular localization
- Secreted
- Cell membrane
- Peripheral membrane protein
- Extracellular side
Alternative names
KIAA1283, CPAMD8, C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8