Identity
HGNC
LOCATION
1q32.2
LOCUSID
ALIAS
MART2,NNMS,SKI1,Skn
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55733
MIM: 605743
HGNC: 18270
Ensembl: ENSG00000054392
Variants:
dbSNP: 55733
ClinVar: 55733
TCGA: ENSG00000054392
COSMIC: HHAT
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signal Transduction | REACTOME | R-HSA-162582 |
| Signaling by Hedgehog | REACTOME | R-HSA-5358351 |
| Hedgehog ligand biogenesis | REACTOME | R-HSA-5358346 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36631813 | 2023 | Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development. | 2 |
| 36631813 | 2023 | Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development. | 2 |
| 35045414 | 2022 | A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis. | 0 |
| 36030053 | 2022 | Hedgehog acyltransferase catalyzes a random sequential reaction and utilizes multiple fatty acyl-CoA substrates. | 2 |
| 35045414 | 2022 | A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis. | 0 |
| 36030053 | 2022 | Hedgehog acyltransferase catalyzes a random sequential reaction and utilizes multiple fatty acyl-CoA substrates. | 2 |
| 33749989 | 2021 | Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. | 1 |
| 34112694 | 2021 | Substrate and product complexes reveal mechanisms of Hedgehog acylation by HHAT. | 25 |
| 34890564 | 2021 | Structure, mechanism, and inhibition of Hedgehog acyltransferase. | 21 |
| 33749989 | 2021 | Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. | 1 |
| 34112694 | 2021 | Substrate and product complexes reveal mechanisms of Hedgehog acylation by HHAT. | 25 |
| 34890564 | 2021 | Structure, mechanism, and inhibition of Hedgehog acyltransferase. | 21 |
| 30912300 | 2019 | Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. | 8 |
| 31177096 | 2019 | Acyltransferase skinny hedgehog regulates TGFβ-dependent fibroblast activation in SSc. | 6 |
| 30912300 | 2019 | Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. | 8 |
Citation
Dessen P
HHAT (hedgehog acyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/41301/hhat-(hedgehog-acyltransferase)
