desert hedgehog protein; DHH; HHG-3; contains: desert hedgehog protein N-product, desert hedgehog protein C-product (DHH)

Function

• intercellular signal essential for a variety of patterning events during development
• essential for testes development
  • may function as a spermatocyte survival factor in the testes.
• the C-terminal domain displays an autoproteolysis activity & a cholesterol transferase activity
  • both activities result in the cleavage of the full-length protein & covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product)
  • this covalent modification appears to play an essential role in restricting the spatial distribution of protein activity to the cell surface
• the N-product is the active species in both local & long-range signaling
• the C-product has no signaling activity (putative)

Structure

• belongs to the hedgehog family

Compartment

• desert hedgehog protein N-product:
  • cell membrane; lipid-anchor; extracellular side (putative)
  • N-terminal peptide remains associated with cell surface (putative)
• desert hedgehog protein C-product:
  • secreted, extracellular space (putative)
  • C-terminal peptide diffuses from the cell (putative)

Pathology

• defects in DHH may be the cause of
  • partial gonadal dysgenesis with minifascicular neuropathy 46,XY
  • complete pure gonadal dysgenesis 46,XY type

More general terms

• hedgehog family protein

Database

• UniProt: http://www.uniprot.org/uniprot/O43323.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=50846
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:50846
• OMIM: https://mirror.omim.org/entry/233420
• OMIM: https://mirror.omim.org/entry/605423
• OMIM: https://mirror.omim.org/entry/607080