CCDC28A
Description
The CCDC28A (coiled-coil domain containing 28A) is a protein-coding gene located on chromosome 6.
CCDC28A is a gene that encodes a protein involved in the formation and function of cilia. Cilia are hair-like structures that project from cells and play roles in sensory perception, cell signaling, and fluid flow. Mutations in this gene can lead to diseases like Joubert syndrome, Meckel-Gruber syndrome, and nephronophthisis, which are characterized by developmental defects and often result in early death.
CCDC28A is a gene that encodes a protein that is thought to be involved in the regulation of cilia formation and function. Cilia are hair-like structures that project from the surface of cells and play a role in a variety of cellular processes, including sensory perception, cell signaling, and fluid flow. Mutations in CCDC28A have been linked to several human diseases, including Joubert syndrome, Meckel-Gruber syndrome, and nephronophthisis. These disorders are characterized by severe developmental defects and often result in early death. Further research is needed to fully understand the role of CCDC28A in human health and disease.
CCDC28A is also known as C6orf80, CCRL1AP.
Associated Diseases
- myoepithelial tumor
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- X-linked intellectual disability-retinitis pigmentosa syndrome
- spermatogenic failure 61
- spermatogenic failure 73
- spermatogenic failure 74
- spermatogenic failure 3
- spermatogenic failure 26
- spermatogenic failure 31
- spermatogenic failure 23
- spermatogenic failure 52
- spermatogenic failure 20
- spermatogenic failure 48
- spermatogenic failure 5
