HHAT

Chr 1q32.2

hedgehog acyltransferase

Aliases:: FLJ10724, MART-2, MART2, Skn, ski
MANE:: ENST00000261458.8

OMIM: 605743 ↗NCBI: 55733 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

HHAT · Q5VTY9

v62025-08-01

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

Mean pLDDT

92.9/ 100

Very high

493 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)12%
Low(50–70)1%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Differences in sex development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

chondrodysplasia-pseudohermaphroditism syndrome
0.72
Chondrodysplasia - disorder of sex development
0.72
46,XY complete gonadal dysgenesis
0.37
heart disorder
0.31
coronary artery disorder
0.30
schizophrenia
0.30
coronary atherosclerosis
0.30
osteoarthritis, hip
0.30
bronchial disorder
0.29
trauma complication
0.29

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

Protein function (UniProt)

Protein-cysteine N-palmitoyltransferase HHAT

Palmitoyl acyltransferase that catalyzes N-terminal palmitoylation of hedgehog (DHH, IHH or SHH) morphogens, promoting their maturation (PubMed:11486055, PubMed:18534984, PubMed:24784881, PubMed:31875564, PubMed:34112694, PubMed:34890564). Promotes the transfer of palmitoyl-CoA from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane, where hedgehog palmitoylation occurs (PubMed:31875564, PubMed:34112694, PubMed:34890564). Required for hedgehog signaling during limb development (By similarity). Plays a role in proper testis cord formation and the differentiation of Leydig cells (PubMed:24784881)