Gene: DHH

Alternate names for this Gene: GDMN|GDXYM|HHG-3|SRXY7

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.12

Description of this Gene: desert hedgehog signaling molecule

Type of Gene: protein-coding

Gene: LOC105369759

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs111033589 in DHH;LOC105369759 gene and 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related PMID 15356051 2004 Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.