ZDHHC21
ZDHHc21: Unraveling the Intriguing Gene Linked to Health and Disease
Description:
ZDHHc21 is a human gene located on chromosome 17q21. It encodes a protein that belongs to the zinc finger DHHC-type containing family. This family of proteins is known to catalyze the palmitoylation of various proteins, a process crucial for membrane trafficking and signal transduction. ZDHHc21 specifically palmitoylates the G proteins GNA12 and GNA13, which are involved in regulating cell growth and differentiation.
Associated Diseases:
Mutations in the ZDHHc21 gene have been linked to several human diseases, including:
- Intellectual Disability: Mutations in ZDHHc21 are a rare cause of intellectual disability, particularly in individuals with autism spectrum disorder.
- Microcephaly: In some cases, ZDHHc21 mutations can lead to microcephaly, a condition where the head is unusually small.
- Obesity: Recent studies have suggested an association between ZDHHc21 polymorphisms and obesity risk.
- Epilepsy: Mutations in ZDHHc21 have been linked to rare forms of epilepsy, including infantile epileptic encephalopathy and Dravet syndrome.
Did you Know ?
Approximately 1 in 50,000 individuals worldwide carries a mutation in the ZDHHc21 gene, highlighting the rarity of these genetic disorders.
