Gene Ontology annotation through association of InterPro records with GO terms

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:27839872

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Recessive human variants with abnormal splicing and anterior-segment dysgenesis support a requirement for CPAMD8 in normal eye development; spatial expression correlates with the affected tissues.

PMID:15177561

Identification and characterization of CPAMD8, a novel member of the complement 3/alpha2-macroglobulin family with a C-terminal Kazal domain.

The original abstract reports heparin binding by the Kazal domain and ionic membrane association; the detailed biochemical assays remain inaccessible.

PMID:32274568

CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.

Human aqueous and vitreous humor contain immunodetected CPAMD8 fragments; the ocular developmental perturbation experiments leave the underlying effector mechanism unresolved.

PMID:32085876

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.

Biallelic human variants associate with heterogeneous anterior-segment disease and glaucoma; adult-eye RNA expression is prominent in ciliary body and corneal epithelium.

PMID:38891949

The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.

Combined heterozygous loss of cpamd8 and adamtsl4 alters zebrafish anterior-eye geometry; cultured ADAMTSL4 variant experiments must not be attributed to CPAMD8.

PMID:42692183

Three-dimensional primary myofibroblast culture reveals morphological alterations in CPAMD8 deficiency.

The abstract reports altered growth and selected transcripts after CPAMD8 knockdown in a human primary-myofibroblast 3D model, without resolving direct biochemical activity.

PMID:14702039

Complete sequencing and characterization of 21,243 full-length human cDNAs.

The general cDNA resource provides sequence provenance only; target-specific partial-clone cautions come from the reviewed UniProt entry.

file:human/CPAMD8/CPAMD8-evidence-index.yaml

CPAMD8 manual evidence and source-scope index