Transmembrane protein 184B (TMEM184B)

Transmembrane protein 184B (TMEM184B) is a highly conserved seven-pass transmembrane protein with crucial roles in the nervous system. It localizes to early and late endosomes and is essential for synaptic maintenance, axon degeneration, and endolysosomal acidification. TMEM184B functions, at least in part, by facilitating assembly and activity of the vesicular ATPase (V-ATPase) proton pump, supporting lumenal acidification necessary for protein turnover and neuronal homeostasis[1][5]. Disruption or pathogenic variants in TMEM184B cause abnormal neural development—including corpus callosum hypoplasia and microcephaly—by altering protein stability, disrupting endolysosomal flux, increasing apoptosis, and impairing axon outgrowth[2][3]. The gene may also regulate gene expression related to neural and synaptic function, possibly via the Wnt signaling pathway. Pathogenic mutations and decreased function are linked to diverse neurodevelopmental syndromes, while loss in mice causes defects in sensory neurons, retinal degeneration, and neuromuscular dysfunction[3]. TMEM184B has also been implicated in cancer biology, being upregulated in certain carcinomas and breast cancer risk[2]. Its precise molecular action is evolving, and while classified as a putative transporter, its transported substrate has not been conclusively identified[2][4]. There are currently no reported drugs or therapeutic modulators or established patient selection biomarkers for this protein.

Other names

C22orf5PSEC0108HS5O6ADKFZP586A1024FM08SLC51C2HSPC256putative MAPK-activating protein FM08transmembrane protein 184B