Entrez Summary: This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
SH3 1
GO Terms
peripheral nervous system myelin maintenance
myelin maintenance
peripheral nervous system axon ensheathment
myelination in peripheral nervous system
Schwann cell development
Schwann cell differentiation
peripheral nervous system development
regulation of ERBB signaling pathway
plasma membrane organization
myelination
glial cell development
axon ensheathment
ensheathment of neurons
glial cell differentiation
gliogenesis
regulation of intracellular protein transport
cytoplasmic vesicle
regulation of intracellular transport
endomembrane system organization
regulation of cellular protein localization
regulation of protein transport
regulation of peptide transport
regulation of establishment of protein localization
membrane organization
regulation of cellular localization
regulation of protein localization
neurogenesis
cell development
regulation of transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)