Aliases for TM4SF20 Gene
External Ids for TM4SF20 Gene
Previous GeneCards Identifiers for TM4SF20 Gene
The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Knockout of the homologous gene in mouse results in a neurobehavioral phenotype with suggested enhanced motor coordination. A deletion mutation in the human gene is associated with specific language impairment-5. [provided by RefSeq, Jul 2016]
GeneCards Summary for TM4SF20 Gene
TM4SF20 (Transmembrane 4 L Six Family Member 20) is a Protein Coding gene. Diseases associated with TM4SF20 include Specific Language Impairment 5 and Specific Language Impairment. An important paralog of this gene is TM4SF1.
UniProtKB/Swiss-Prot Summary for TM4SF20 Gene
Polytopic transmembrane protein that inhibits regulated intramembrane proteolysis (RIP) of CREB3L1, inhibiting its activation and the induction of collagen synthesis (PubMed:25310401, PubMed:27499293). In response to ceramide, which alters TM4SF20 membrane topology, stimulates RIP activation of CREB3L1 (PubMed:27499293). Ceramide reverses the direction through which transmembrane helices are translocated into the endoplasmic reticulum membrane during translation of TM4SF20, this mechanism is called 'regulated alternative translocation' (RAT) and regulates the function of the transmembrane protein (PubMed:27499293).