CNKSR2
Function
May function as an adapter protein or regulator of Ras signaling pathways.
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic, Houge type
MRXSHG
A disorder characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. Carrier females may be mildly affected.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated on tyrosine.
Sequence Similarities
Belongs to the CNKSR family.
Cellular localization
- Cytoplasm
- Membrane
- Peripheral membrane protein
Alternative names
CNK2, KIAA0902, KSR2, CNKSR2, Connector enhancer of kinase suppressor of ras 2, Connector enhancer of KSR 2, CNK homolog protein 2