CADM3
Domain
The cytoplasmic region mediates interaction with EPB41L1, DLG3, PALS2 and CASK.
Function
Involved in cell-cell adhesion. Has both calcium-independent homophilic cell-cell adhesion activity and calcium-independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Interaction with EPB41L1 may regulate structure or function of cell-cell junctions (By similarity).
Involvement in disease
Charcot-Marie-Tooth disease, axonal, 2FF
CMT2FF
A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2FF is characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Some patients lose independent ambulation. There is also prominent involvement of the upper limbs.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the nectin family.
Tissue Specificity
Isoform 1 is expressed mainly in adult and fetal brain. Isoform 2 is highly expressed in adult brain and weakly expressed in placenta. In brain, Isoform 2 is highly expressed in cerebellum.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cell junction
Alternative names
IGSF4B, NECL1, SYNCAM3, TSLL1, UNQ225/PRO258, CADM3, Cell adhesion molecule 3, Brain immunoglobulin receptor, Immunoglobulin superfamily member 4B, Nectin-like protein 1, Synaptic cell adhesion molecule 3, TSLC1-like protein 1, IgSF4B, NECL-1, SynCAM3