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Target intelligence / Profile preview
EF-hand and coiled-coil domain containing 1 (EFCC1)
- Target
- EFCC1
- Molecular classification
- Other (EF-hand motif protein), Calcium-binding protein (contains EF-hand domain and a coiled-coil domain, but is not a receptor, transporter, or enzyme)
01
Overview
EF-hand and coiled-coil domain containing 1 is a protein-coding gene in humans located on chromosome 3 (gene symbol EFCC1)[1][3][5][6]. It is characterized by an EF-hand motif, a helix-loop-helix domain known for binding calcium ions, and a coiled-coil domain[4][8]. The protein is predicted to bind calcium, potentially influencing intracellular calcium signals and associated cellular processes, though its exact physiological functions are not fully clarified[1][8]. Clinical associations exist with rare inherited conditions such as osteogenesis imperfecta type XII and nephronophthisis 1, but its mechanistic role in disease is not well understood[1]. This protein is not considered a classical therapeutic target, nor is it involved in widely recognized pathways for pharmacological intervention[1][5][6][8].
- Other names
- C3orf73CCDC48
02
Mechanism of action
Not applicable; EFCC1 is not a recognized drug target, so clinical mechanisms of action do not exist
03
Biological functions
Calcium ion binding (via EF-hand motif)Possible involvement in intracellular signaling pathways related to calcium dynamics
04
Disease associations
Osteogenesis imperfecta, type XIINephronophthisis 1No evidence for major roles in cancer, inflammation, neurodegenerative, or cardiovascular pathology at present
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