DISEASES

Disease-gene associations mined from literature

Literature associating KDELR1 and hydranencephaly

KDELR1 [ENSP00000329471]

KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1; Required for the retention of luminal endoplasmic reticulum resident proteins via vesicular recycling. This receptor recognizes the C-terminal K-D-E-L motif. COPI-coated transport intermediates, either in the form of round vesicles or as tubular processes, mediate retrograde traffic of the KDEL receptor-ligand complexes. Also required for normal vesicular traffic through the Golgi.

Synonyms:  KDELR1,  KDELR1p,  hKDELR1,  KDELR1-001,  KDELR1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM