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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HHAT
hedgehog acyltransferase
Chromosome 1 Β· 1q32.2
NCBI Gene: 55733Ensembl: ENSG00000054392.14HGNC: HGNC:18270UniProt: B7Z5N1
32PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein maturationendoplasmic reticulumendoplasmic reticulum membranechondrodysplasia-pseudohermaphroditism syndromeChondrodysplasia - disorder of sex development46,XY complete gonadal dysgenesiscoronary artery disease
✦AI Summary

HHAT (hedgehog acyltransferase) is a multipass transmembrane enzyme that catalyzes N-terminal palmitoylation of hedgehog proteins, primarily Sonic Hedgehog (SHH) and Desert Hedgehog (DHH), a modification critical for hedgehog signaling 12. HHAT contains 10 transmembrane domains and functions as a member of the membrane-bound O-acyltransferase (MBOAT) family 2. The enzyme transfers palmitoyl-CoA from the cytoplasmic side to the luminal side of the endoplasmic reticulum membrane, where palmitoylation occurs 34. Cryo-EM structures reveal that HHAT contains a heme group essential for catalytic function and employs an active site that bridges opposite membrane surfaces to facilitate acyl chain transfer 34. HHAT is essential for proper embryonic development and testicular organogenesis 2. Pathogenic variants in HHAT are associated with 46,XY disorders of sex development (DSD) and gonadal dysgenesis, indicating its critical role in sexual development 56. Additionally, HHAT's role in hedgehog signaling makes it therapeutically relevant in cancer, with selective HHAT inhibitors showing potential as anti-cancer agents 7.

Sources cited
1
HHAT catalyzes palmitoylation of Hedgehog proteins and is a member of the MBOAT family
PMID: 22391306
2
HHAT contains 10 transmembrane domains and 2 re-entrant loops; essential for development and testicular organogenesis
PMID: 25488661
3
Cryo-EM structures showing HHAT substrate and product complexes; mechanism of acyl chain transfer across ER membrane
PMID: 34112694
4
HHAT structure with heme group essential for function; inhibitor binding mechanism revealed
PMID: 34890564
5
Pathogenic variants in HHAT identified in patients with 46,XY DSD
PMID: 36631813
6
Homozygous HHAT missense variant associated with 46,XY gonadal dysgenesis
PMID: 35045414
7
HHAT inhibitors developed as potential therapeutic agents targeting hedgehog signaling in cancer
PMID: 28408481
Disease Associationsβ“˜21
chondrodysplasia-pseudohermaphroditism syndromeOpen Targets
0.72Strong
Chondrodysplasia - disorder of sex developmentOpen Targets
0.71Strong
46,XY complete gonadal dysgenesisOpen Targets
0.37Weak
coronary artery diseaseOpen Targets
0.33Weak
coronary atherosclerosisOpen Targets
0.33Weak
heart diseaseOpen Targets
0.33Weak
schizophreniaOpen Targets
0.31Weak
osteoarthritis, hipOpen Targets
0.31Weak
Abdominal painOpen Targets
0.28Weak
HeadacheOpen Targets
0.27Weak
Limb painOpen Targets
0.27Weak
genetic disorderOpen Targets
0.27Weak
spondylolisthesisOpen Targets
0.27Weak
alopecia areataOpen Targets
0.26Weak
cataractOpen Targets
0.25Weak
trauma complicationOpen Targets
0.25Weak
nephrotic syndromeOpen Targets
0.25Weak
ovarian dysfunctionOpen Targets
0.25Weak
hyperpituitarismOpen Targets
0.25Weak
transient ischemic attackOpen Targets
0.24Weak
Nivelon-Nivelon-Mabille syndromeUniProt
Pathogenic Variants8
NM_018194.6(HHAT):c.112C>T (p.Gln38Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 38
NM_018194.6(HHAT):c.567G>A (p.Trp189Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 189
NM_018194.6(HHAT):c.727_728dup (p.Leu244fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 244
NM_018194.6(HHAT):c.1134G>A (p.Trp378Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 378
NM_018194.6(HHAT):c.1A>T (p.Met1Leu)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2017β†’ Residue 1
NM_018194.6(HHAT):c.218G>A (p.Trp73Ter)Likely pathogenic
Chondrodysplasia-pseudohermaphroditism syndrome
β˜†β˜†β˜†β˜†2024β†’ Residue 73
NM_018194.6(HHAT):c.860G>T (p.Gly287Val)Pathogenic
Chondrodysplasia-pseudohermaphroditism syndrome
β˜†β˜†β˜†β˜†2024β†’ Residue 287
NM_018194.6(HHAT):c.770T>C (p.Leu257Pro)Pathogenic
Chondrodysplasia-pseudohermaphroditism syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 257
View on ClinVar β†—
Related Genes
PALB2Protein interaction99%NDUFAB1Protein interaction99%AASDHProtein interaction80%DHHProtein interaction77%MLANAProtein interaction77%MAFGProtein interaction74%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
82%
Liver
75%
Ovary
63%
Brain
63%
Lung
40%
Gene Interaction Network
Click a node to explore
HHATPALB2NDUFAB1AASDHDHHMLANAMAFG
PROTEIN STRUCTURE
Preparing viewer…
PDB6UJO Β· 2.25 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.61 [0.47–0.79]
RankingsWhere HHAT stands among ~20K protein-coding genes
  • #11,526of 20,598
    Most Researched32
  • #3,118of 5,498
    Most Pathogenic Variants8
  • #6,451of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedHHAT
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Engineering TCR-controlled fuzzy logic into CAR TΒ cells enhances therapeutic specificity.
PMID: 40220754
Cell Β· 2025
1.00
2
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
PMID: 36631813
Reprod Biol Endocrinol Β· 2023
0.90
3
Membrane topology of hedgehog acyltransferase.
PMID: 25488661
J Biol Chem Β· 2015
0.80
4
Palmitoylation of proteins in cancer.
PMID: 28408481
Biochem Soc Trans Β· 2017
0.70
5
Palmitoylation of Hedgehog proteins.
PMID: 22391306
Vitam Horm Β· 2012
0.60