DHH

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]

Description

Desert hedgehog signaling molecule

Tissue specificity

Tissue enriched (testis)

Predicted location

Secreted in male reproductive system

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins
Protein evidence (Kim et al 2014)

Chromosome

12 (49086656 - 49094801)

Ensembl ID

ENSG00000139549  (ver. 103.38)

Orthologs

Mouse Dhh: ENSMUSG00000023000

UniProt

O43323

neXtProt

NX_O43323

Human splice variants
Mouse splice variants

Protein structure