Wikipedia / PACSIN3
Wikipedia / PACSIN3
Protein kinase C and casein kinase substrate in neurons protein 3 is an enzyme that in humans is encoded by the PACSIN3 gene.
Human disease
Biallelic truncating variants in the PACSIN3 gene has been associated with hyperCKemia and childhood onset myopathy.
Interactions
PACSIN3 has been shown to interact with PACSIN1 and PACSIN2.