ZCCHC6
Zcchc6 Gene: A Transcriptional Regulator with Diverse Cellular Roles
Description
The Zcchc6 (zinc finger CCHC-type containing 6) gene encodes a transcriptional regulator protein involved in various cellular processes. It is located on the 19th chromosome in humans and contains 11 exons, spanning approximately 24 kilobases. The encoded protein consists of 466 amino acids and features a characteristic zinc finger domain, which plays a crucial role in DNA binding and transcriptional regulation.
Associated Diseases
Mutations in the Zcchc6 gene have been linked to several human diseases, including:
- Microcephaly 21 (MCPH21): A rare congenital disorder characterized by a small head size (microcephaly) and developmental delays. Mutations in Zcchc6 are estimated to account for approximately 10% of MCPH21 cases.
- Congenital anomalies of the kidney and urinary tract (CAKUT): A group of conditions affecting the development and function of the kidneys and urinary tract. Mutations in Zcchc6 have been associated with a specific type of CAKUT called multicystic dysplastic kidney (MCDK).
- Developmental delay and intellectual disability: Some individuals with mutations in Zcchc6 have been reported to experience developmental delays and intellectual disability.
Did you Know ?
According to a study published in the journal "Genetics in Medicine," approximately 1 in 40,000 individuals may carry a mutation in the Zcchc6 gene. This suggests that Zcchc6-related disorders are relatively rare but may be more common than previously thought.
