SCYL2

Description

The SCYL2 (SCY1 like pseudokinase 2) is a protein-coding gene located on chromosome 12.

SCYL2 is a protein encoded by the SCYL2 gene in humans.

SCYL2 is a component of the AP2-containing clathrin coat, potentially regulating clathrin-dependent trafficking at the plasma membrane, trans-Golgi network (TGN), and endosomal system. While it is suggested as a serine/threonine-protein kinase toward the beta2-subunit of the plasma membrane adapter complex AP2 and other proteins in the presence of poly-L-lysine, this has not been definitively confirmed (PubMed:15809293, PubMed:16914521). Through its influence on the expression of excitatory receptors at synapses, SCYL2 plays a critical role in neuronal function, signaling, and brain development (By similarity).

SCYL2 is also known as AMC4, AMCNACC, CVAK104.

Associated Diseases

• Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
• Neurogenic arthrogryposis multiplex congenita