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: 1892
MIM: 602292
HGNC: 3151
Ensembl: ENSG00000127884
Variants:
dbSNP: 1892
ClinVar: 1892
TCGA: ENSG00000127884
COSMIC: ECHS1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000127884 | ENST00000368547 | P30084 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38363494 | 2024 | Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity. | 0 |
| 38363494 | 2024 | Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity. | 0 |
| 32677093 | 2021 | Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. | 11 |
| 33112498 | 2021 | ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder. | 5 |
| 33881965 | 2021 | Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer. | 9 |
| 34615856 | 2021 | ECHS1, an interacting protein of LASP1, induces sphingolipid-metabolism imbalance to promote colorectal cancer progression by regulating ceramide glycosylation. | 13 |
| 32677093 | 2021 | Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. | 11 |
| 33112498 | 2021 | ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder. | 5 |
| 33881965 | 2021 | Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer. | 9 |
| 34615856 | 2021 | ECHS1, an interacting protein of LASP1, induces sphingolipid-metabolism imbalance to promote colorectal cancer progression by regulating ceramide glycosylation. | 13 |
| 31690668 | 2020 | Inactivation of the AMPK-GATA3-ECHS1 Pathway Induces Fatty Acid Synthesis That Promotes Clear Cell Renal Cell Carcinoma Growth. | 48 |
| 31891870 | 2020 | ECHS1 suppresses renal cell carcinoma development through inhibiting mTOR signaling activation. | 11 |
| 32677908 | 2020 | Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report. | 6 |
| 32858208 | 2020 | Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. | 6 |
| 31690668 | 2020 | Inactivation of the AMPK-GATA3-ECHS1 Pathway Induces Fatty Acid Synthesis That Promotes Clear Cell Renal Cell Carcinoma Growth. | 48 |
Citation
Dessen P
ECHS1 (enoyl-CoA hydratase, short chain 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-03-01
Online version: http://atlasgeneticsoncology.org/gene/53815/echs1-(enoyl-coa-hydratase-short-chain-1)
