Identity
HGNC
LOCATION
16q23.1
LOCUSID
ALIAS
FAAH,FAH1,FAXDC1,SCS7,SPG35
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: 79152
MIM: 611026
HGNC: 21197
Ensembl: ENSG00000103089
Variants:
dbSNP: 79152
ClinVar: 79152
TCGA: ENSG00000103089
COSMIC: FA2H
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000103089 | ENST00000219368 | Q7L5A8 |
| ENSG00000103089 | ENST00000567683 | H3BP32 |
| ENSG00000103089 | ENST00000569949 | J3QS89 |
| ENSG00000103089 | ENST00000618933 | A0A087WVM8 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38306901 | 2024 | A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients. | 0 |
| 38306901 | 2024 | A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients. | 0 |
| 36902339 | 2023 | Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases. | 2 |
| 37410270 | 2023 | The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families. | 1 |
| 36902339 | 2023 | Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases. | 2 |
| 37410270 | 2023 | The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families. | 1 |
| 33203703 | 2021 | 2-Hydroxylation of Fatty Acids Represses Colorectal Tumorigenesis and Metastasis via the YAP Transcriptional Axis. | 17 |
| 33246395 | 2021 | Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H. | 0 |
| 33203703 | 2021 | 2-Hydroxylation of Fatty Acids Represses Colorectal Tumorigenesis and Metastasis via the YAP Transcriptional Axis. | 17 |
| 33246395 | 2021 | Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H. | 0 |
| 32798015 | 2020 | Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration. | 4 |
| 33064010 | 2020 | Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses. | 3 |
| 32798015 | 2020 | Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration. | 4 |
| 33064010 | 2020 | Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses. | 3 |
| 30446360 | 2019 | Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient. | 0 |
Citation
Dessen P
FA2H (fatty acid 2-hydroxylase)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40523/fa2h
