HHAT G278V abrogates palmitoylation of Hh-Np

Stable Identifier
R-HSA-5658034
Type
Pathway
Species
Homo sapiens
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A loss-of-function mutation in HHAT that abrogates palmitoylation of Hh ligand is associated with Syndromic 46, XY Disorder of Sex Development, which results in testis dysgenesis (Callier et al, 2014).

Literature References
PubMed ID Title Journal Year
24784881 Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

Callier, P, Calvel, P, Matevossian, A, Makrythanasis, P, Bernard, P, Kurosaka, H, Vannier, A, Thauvin-Robinet, C, Borel, C, Mazaud-Guittot, S, Rolland, A, Desdoits-Lethimonier, C, Guipponi, M, Zimmermann, C, Stévant, I, Kuhne, F, Conne, B, Santoni, F, Lambert, S, Huet, F, Mugneret, F, Jaruzelska, J, Faivre, L, Wilhelm, D, Jégou, B, Trainor, PA, Resh, MD, Antonarakis, SE, Nef, S

PLoS Genet. 2014
Participants
Participant Of
Disease
Name Identifier Synonyms
46 XY gonadal dysgenesis 14448 Pure gonadal dysgenesis 46,XY (disorder), 46,XY SEX REVERSAL
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Reviewed
Created