DHH

Chr 12q13.12

desert hedgehog signaling molecule

Aliases:: HHG-3, MGC35145
MANE:: ENST00000649637.2

OMIM: 605423 ↗NCBI: 50846 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DHH · O43323

v62025-08-01

Predicted Aligned Error matrix for DHH — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.4/ 100

Confident

396 residues

Confidence breakdown

Very high(≥ 90)52%
Confident(70–90)30%
Low(50–70)13%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Differences in sex development
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy

Disease associations (Open Targets)

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
0.69
46,XY complete gonadal dysgenesis
0.68
46,XY gonadal dysgenesis - motor and sensory neuropathy
0.63
hereditary disease
0.19
oral cavity neoplasm
0.19
neurodegenerative disease
0.17
disorder of sexual differentiation
0.12
Genetic 46,XY disorder of sex development
0.11
spermatogenic failure
0.09
partial chromosome Y deletion
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Desert hedgehog protein

Precursor of desert hedgehog, a morphogen that activates the smoothened signaling pathway, and which is essential for a variety of patterning events during development (By similarity). The C-terminal part of the precursor displays an autoproteolysis and a cholesterol transferase activity, resulting (1) in the cleavage of the full-length protein into two parts, desert hedgehog protein N-product and C-product and (2) covalent attachment of a cholesterol moiety to the C-terminus of the newly generated N-product (DHH-N) (By similarity). Both autoproteolysis and a cholesterol transferase activities occur in the endoplasmic reticulum (By similarity). Following additional lipidation, DHH-N acts as a morphogen, while the C-product is degraded in the endoplasmic reticulum (By similarity)