EFCAB2
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
