Recombinant Human Desert hedgehog protein (DHH)

Uniprot Id

O43323

Target Species

Human

Target Name

DHH

Target Full Name

Desert hedgehog protein

Target Function

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.

Target Involvement

Partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD); 46,XY sex reversal 7 (SRXY7)

Target Subcellular Location

[Desert hedgehog protein N-product]: Cell membrane; Lipid-anchor; Extracellular side.; [Desert hedgehog protein C-product]: Secreted, extracellular space.

Target Protein Families

Hedgehog family

Target Synonyms

C78960; Desert hedgehog (Drosophila) homolog; Desert hedgehog; Desert hedgehog homolog (Drosophila); Desert hedgehog protein C-product; Desert hedgehog protein precursor; DHH; DHH_HUMAN; GDXYM; HHG-3; Hira; SRXY7

Target Background

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.