Switch #: SWTI000565

Switch type: Binary

Switch subtype: Pre-translational

Description:
Alternative splicing removes the KDEL ER-retention motif of Prolyl 3-hydroxylase 1 (LEPRE1).

Participants:
(1) Prolyl 3-hydroxylase 1 (LEPRE1)
(2) ER lumen protein retaining receptor 1 (KDELR1)

(1) Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.
Willaert et al. J. Med. Genet. (2009)

Other switches involving participants
ER lumen protein retaining receptor 1 (KDELR1) - 1 more (view)

Other switches involving interfaces
TRG_ER_KDEL_1 - 1 more (view)
ER lumen protein retaining receptor - 1 more (view)