TENM4
Domain
EGF-like domains 2 and 5 which have an odd number of cysteines might enable the formation of intermolecular disulfide bonds.
Cytoplasmic proline-rich regions could serve as docking domains for intracellular SH3-containing proteins.
Function
Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Plays a role in the establishment of the anterior-posterior axis during gastrulation. Regulates the differentiation and cellular process formation of oligodendrocytes and myelination of small-diameter axons in the central nervous system (CNS) (PubMed:26188006). Promotes activation of focal adhesion kinase. May function as a cellular signal transducer (By similarity).
Involvement in disease
Tremor, hereditary essential 5
ETM5
A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the tenascin family. Teneurin subfamily.
Cellular localization
- Cell membrane
- Single-pass membrane protein
- Cell projection
- Nucleus
- Cytoplasm
Alternative names
KIAA1302, ODZ4, TNM4, TENM4, Teneurin-4, Ten-4, Protein Odd Oz/ten-m homolog 4, Tenascin-M4, Teneurin transmembrane protein 4, Ten-m4