DISEASES

Disease-gene associations mined from literature

Literature associating TEX264 and Ruijs-Aalfs syndrome

TEX264 [ENSP00000396628]

Testis-expressed protein 264; Major reticulophagy (also called ER-phagy) receptor that acts independently of other candidate reticulophagy receptors to remodel subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover . The ATG8- containing isolation membrane (IM) cradles a tubular segment of TEX264- positive ER near a three-way junction, allowing the formation of a synapse of 2 juxtaposed membranes with trans interaction between the TEX264 and ATG8 proteins . Expansion of the IM would extend the capture of ER, possibly through a 'zipper-like' process involving continued trans TEX264-ATG8 interactions, until poorly understood mechanisms lead to the fission of relevant membranes and, ultimately, autophagosomal membrane closure .

Synonyms:  TEX264,  TEX264p,  hTEX264,  A0A087WTU3,  C9J7N0 ...

Linkouts:  STRING  Pharos  UniProt