DISEASES

Disease-gene associations mined from literature

Literature associating STX17 and alopecia

STX17 [ENSP00000259400]

Syntaxin-17; SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion (PubMed:23217709, PubMed:25686604, PubMed:28306502). STX17 is a SNARE of the autophagosome involved in autophagy through the direct control of autophagosome membrane fusion with the lysosome membrane (PubMed:23217709, PubMed:25686604, PubMed:28306502). May also play a role in the early secretory pathway where it may maintain the architecture of the endoplasmic reticulum- Golgi intermediate compartment/ERGIC and Golgi and/or regulate transport between the endoplasmic reticulum, the ERGIC and the Golgi . ECO:0000269|PubMed:23217709, ECO:0000269|PubMed:25686604,

Synonyms:  STX17,  STX17p,  hSTX17,  E9PIC2,  E9PJV6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM