Alias                                 (According to NCBI)

Description   

(According to SwissProt)

This gene, which is expressed only during embryogenesis, 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. In addition, it is 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.

(According to NCBI, CGH: progenetix)

CGH (7q36): Losses (%) -3.8   Gain (%)  6.3   Amplifications  0.0

Sub cellular location: The C-terminal peptide diffuses from the cell, while the N-terminal peptide
remains associated with the cell surface. Is also secreted in either cleaved or uncleaved form to
mediate signaling to other cells.

Protein domains:

Protein sequence: Q15465

Homologous genes: SHH

PTM: SHH

(According to GeneNote, PubMed, HPA)