Short Description: This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is 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 developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]. More information related to gene Sonic Hedgehog.
Synonyms and alternative names related to Sonic Hedgehog
sonic hedgehog (SHH)
sonic hedgehog (Shh)
sonic hedgehog a (shha)
sonic hedgehog L homeolog (shh.L)
sonic hedgehog (shh)
sonic hedgehog protein A (shh)
sonic hedgehog b (shhb)
9530036O11Rik
Dsh
fc83d08
hedgehog
HHG1
Hhg1
HLP3
HPE3
Hx
Hxl3
M100081
MCOPCB5
shh
SHH
SMMCI
syu
TPT
TPTPS
twh
twhh
vhh-1
vhh1
wu:fc83d08
Xhh
xshh
Gene-IDs for different species
Protein level used designations for Sonic Hedgehog
sonic hedgehog homolog
sonic hedgehog protein
HHG-1
hemimelic extra toes
short digits
sonic hedgehog protein A
sonic-you
VHH-1
X-SHH
morphogen
sonic hedgehog
sonic hedgehog protein B
tiggy winkle hedge hog
tiggy winkle hedgehog
tiggy-winkle hedgehog protein
Proteomics products related to Sonic Hedgehog Gene
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