Basic information of FA2H :
| Official Symbol of Gene | FA2H |
| Species | Homo sapiens |
| Entrez Gene ID | 79152 |
| Official Full Name | fatty acid 2-hydroxylase |
| Also known as | FAAH; FAH1; SCS7; SPG35; FAXDC1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000103089 MIM:611026; AllianceGenome:HGNC:21197 |
| Map Location | 16q23.1 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | Western blotting |
| Disease | MS |
| Disease subtype | PPMS |
| Population | N/A |
| Sample Size | N/A |
Literature information of multiple sclerosis :
| Pubmed ID | 32358523 |
| Year | 2020 |
| Title | A novel neurodegenerative spectrum disorder in patients with MLKL deficiency |
Results of multiple sclerosis :
| Expression | down-regulation |
| Risk type | Disease risk |
| Result | The findings may suggest that impaired necroptosis is a novel mechanism of neurodegeneration, promoting a disorder that shares some clinical features with primary progressive multiple sclerosis (PPMS) and other neurodegenerative diseases |
| Mechanism/Pathway | MLKL leads to a deficiency of MLKL protein resulting in impairment of necroptosis |
