Hh mutants are degraded by ERAD

Stable Identifier
Homo sapiens
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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
PubMed ID Title Journal Year
19603532 The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Roessler, E, El-Jaick, KB, Dubourg, C, VĂ©lez, JI, Solomon, BD, Pineda-Alvarez, DE, Lacbawan, F, Zhou, N, Ouspenskaia, M, Paulussen, A, Smeets, HJ, Hehr, U, Bendavid, C, Bale, S, Odent, S, David, V, Muenke, M

Hum. Mutat. 2009
20104595 The molecular genetics of holoprosencephaly

Roessler, E, Muenke, M

Am J Med Genet C Semin Med Genet 2010
23565096 A review of hedgehog signaling in cranial bone development

Pan, A, Chang, L, Nguyen, A, James, AW

Front Physiol 2013
Name Identifier Synonyms
46 XY gonadal dysgenesis DOID:14448 Pure gonadal dysgenesis 46,XY (disorder), 46,XY SEX REVERSAL
holoprosencephaly DOID:4621 Holoprosencephaly sequence (disorder)
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