Reactome: A Curated Pathway Database

Hh mutants that don't undergo autocatalytic processing are degraded by ERAD

Stable Identifier
R-HSA-5362768
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

Hh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a number of genes that have been associated with the congenital disorder holoprosencephaly, which causes abnormalities in brain and craniofacial development (Roessler et al, 2009; reviewed in Roessler and Muenke, 2011). SHH variants associated with the condition affect the autocatalytic processing of the precursor and dramatically impair the production of the secreted active Hh-Np, abrogating signaling (reviewed in Pan et al, 2013).

Literature References
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms
46 XY gonadal dysgenesis 14448 Pure gonadal dysgenesis 46,XY (disorder), 46,XY SEX REVERSAL
holoprosencephaly 4621 Holoprosencephaly sequence (disorder)