CCDC134 Chromosome 22

Coiled-coil domain containing 134

1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in CCDC134.

What This Gene Does

Enables protein-macromolecule adaptor activity. Involved in positive regulation of signal transduction; regulation of ossification; and regulation of protein glycosylation. Located in cytosol and intracellular membrane-bounded organelle. Is active in endoplasmic reticulum lumen. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Apr 2025]

Associated Conditions (4)

Recurrent fractures

Osteogenesis imperfecta

IIA 22

Severe progressive deforming recessive osteogenesis imperfecta (type III)

Key Variants

RS1255441851

Pathogenic

Recurrent fractures, Osteogenesis imperfecta, IIA 22

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1255441851	Health Risk	Pathogenic	Recurrent fractures, Osteogenesis imperfecta, IIA 22