ZDHHC16
Description
The ZDHHC16 (zinc finger DHHC-type palmitoyltransferase 16) is a protein-coding gene located on chromosome 10.
ZDHHC16 is a palmitoyl acyltransferase that mediates palmitoylation of proteins such as PLN and ZDHHC6. It plays a role in embryonic heart development and cardiac function, possibly by mediating palmitoylation of PLN, affecting PLN phosphorylation and homooligomerization. ZDHHC16 is also required for eye development. It palmitoylates ZDHHC6, affecting the quaternary assembly of ZDHHC6, its localization, stability and function. ZDHHC16 may play a role in DNA damage response, apoptosis regulation, and the proliferation of neural stem cells by regulating the FGF/ERK pathway.
ZDHHC16 is also known as APH2, DHHC-16.
Associated Diseases
- cardiomyopathy, dilated, 2G
- dilated cardiomyopathy 1AA
- myopathy, distal, 7, adult-onset, X-linked
- melorheostosis
- hypertrophic cardiomyopathy 6
- atrial standstill
- left ventricular noncompaction
- GNE myopathy
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- distal myopathy with posterior leg and anterior hand involvement
- 12q14 microdeletion syndrome
- autosomal recessive limb-girdle muscular dystrophy type 2L
- congenitally corrected transposition of the great arteries
- hypertrophic cardiomyopathy 10
