EFCAB2

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Description

The EFCAB2 (EF-hand calcium binding domain 2) is a protein-coding gene located on chromosome 1.

EFCAB2 is part of the nexin-dynein regulatory complex (N-DRC), which plays a crucial role in controlling the movement of cilia and flagella. This complex ensures the proper alignment and structural integrity of the distal axoneme, the microtubule-based structure within these cellular appendages. Furthermore, the N-DRC regulates the sliding of microtubules within motile axonemes, contributing to the coordinated beating of cilia and flagella.

EFCAB2 is also known as CFAP200, DRC8.

Associated Diseases

• X-linked retinal dysplasia
• choroidal dystrophy, central areolar, 1
• retinitis pigmentosa
• severe early-childhood-onset retinal dystrophy
• reticular dystrophy of the retinal pigment epithelium
• age related macular degeneration 4
• age related macular degeneration 7
• age related macular degeneration 11
• coloboma of macula
• X-linked retinoschisis
• coloboma of optic nerve
• osteoarthritis
• cancer
• schizophrenia