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Beschreibung

Membralin (UniProt: Q8CIV2, also known as Transmembrane protein 259) is encoded by the Tmem259 (also known as ORF61) gene (Gene ID: 216157) in murine species. Membralin is a highly conserved protein with several transmembrane regions. However, the sequence of membralin does not show any closely related genes. It has multiple glycosylation sites and cytosolic regions at both the N-terminal ends and C-terminal ends. It is expressed in multiple tissues, including brain and spinal cord. However, it is not found in heart, skeletal muscle, and spleen. In humans its membralin expression is reported in certain cancers, including the ovarian cancers. Membralin is reported to have a role in the ER-associated protein degradation (ERAD) pathway and is required for clearance of misfolded proteins in the endoplasmic reticulum (ER). It is also required for survival of motor neurons. Membralin mutant mice display increased basal ER stress and severe and early-onset motor neuron disease and die by postnatal day 5 or 6. (Ref.: Chen YC et al. (2005). Biochimica Biophysica Acta 1730(2): 96-102.)