Entrez Summary: This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010].
UniProt Summary: Intercellular signal essential for a variety of patterning events during development. May function as a spermatocyte survival factor in the testes. Essential for testes development.
Pfam DomainsGO Terms
Pfam Domains
Hint
HH signal
GO Terms
patched binding
Leydig cell differentiation
male sex determination
sex determination
smoothened signaling pathway
response to estrogen
peptidase activity
cell fate specification
regulation of steroid biosynthetic process
myelination
axon ensheathment
ensheathment of neurons
regulation of steroid metabolic process
osteoblast differentiation
male gonad development
development of primary male sexual characteristics
response to estradiol
spermatid development
male sex differentiation
spermatid differentiation
regulation of lipid biosynthetic process
gonad development
development of primary sexual characteristics
cell fate commitment
germ cell development
ossification
sex differentiation
cellular process involved in reproduction in multicellular organism
regulation of lipid metabolic process
reproductive structure development
reproductive system development
spermatogenesis
male gamete generation
developmental process involved in reproduction
gamete generation
calcium ion binding
multicellular organismal reproductive process
sexual reproduction
zinc ion binding
multicellular organism reproduction
response to lipid
response to hormone
response to organic cyclic compound
multi-organism reproductive process
cell-cell signaling
proteolysis
reproductive process
reproduction
response to endogenous stimulus
response to oxygen-containing compound
extracellular space
cell development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)