SCYL2

Component of the AP2-containing clathrin coat that may regulate clathrin-dependent trafficking at plasma membrane, TGN and endosomal system (Probable). A possible serine/threonine-protein kinase toward the beta2-subunit of the plasma membrane adapter complex AP2 and other proteins in presence of poly-L-lysine has not been confirmed (PubMed:15809293, PubMed:16914521). By regulating the expression of excitatory receptors at synapses, plays an essential role in neuronal function and signaling and in brain development (By similarity).

Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

AMC4

A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC4 is an autosomal recessive, severe form with onset in utero. Patients manifest little or no fetal movements, significant contractures affecting the upper and lower limbs, dysmorphic facial features, optic atrophy, limb fractures, profound global developmental delay, seizures, and peripheral neuropathy. Many patients die in early childhood.

None

The disease is caused by variants affecting the gene represented in this entry.

Could autophosphorylate in presence of poly-L-lysine.

Belongs to the protein kinase superfamily.

• Cytoplasmic vesicle
• Clathrin-coated vesicle
• Golgi apparatus
• trans-Golgi network membrane
• Endosome membrane
• Colocalizes to the trans-Golgi network (TGN) and to endosomal membranes with clathrin, transferrin and plasma membrane adapter AP1 and AP3 complexes.

CVAK104, KIAA1360, SCYL2, SCY1-like protein 2, Coated vesicle-associated kinase of 104 kDa

• entrezGene:55681
• omim:616365
• swissprot:Q6P3W7

Proteins

103709Da