Target intelligence / Profile preview

Transmembrane 4 L6 family member 20 (TM4SF20)

Target
TM4SF20
Molecular classification
Polytopic membrane protein, Four-transmembrane L6 superfamily, Tetraspanin-like family (not a canonical tetraspanin, but related)
01

Overview

Transmembrane 4 L6 family member 20 (TM4SF20) is a membrane protein belonging to the four-transmembrane L6 superfamily, characterized by four transmembrane domains and broad tissue expression, including high levels in regions of the human brain such as the parietal and occipital lobes, hippocampus, pons, white matter, corpus callosum, and cerebellum[3][7]. TM4SF20 is the first protein shown to undergo regulated alternative translocation (RAT), a process induced by ceramide that inverts the topology of the protein within the endoplasmic reticulum membrane[1][4][5]. This topological change regulates the ability of TM4SF20 to inhibit or stimulate the proteolytic activation of the membrane-bound transcription factor CREB3L1, thus modulating the induction of genes involved in collagen synthesis and cell proliferation[1][2][3][6]. Knockout of the homologous gene in mice results in alterations in neurobehavioral phenotypes, including enhanced motor coordination, and human gene deletion has been linked to specific language impairment[3]. TM4SF20 does not have a well-documented direct therapeutic targeting role, known small molecule ligands, or use as a biomarker, and no notable safety or toxicity issues have been described in the available literature.

Other names
Transmembrane 4 L6 family member 20TM4SF20UNQ518/PRO994FLJ22800TCCE518PRO994SLI5
02

Biological functions

Regulation of proteolytic activation of CREB3L1 transcription factorModulation of endoplasmic reticulum (ER) membrane protein topologyInhibition or stimulation of collagen synthesis (via influence on CREB3L1)Cell proliferation, motility, and adhesion (via integrin interaction)
03

Disease associations

Specific language impairment (gene deletion/variant: Specific Language Impairment 5)Other neurobehavioral/brain phenotypes (from knock-out mouse models)

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