Search for a gene
FA2H - fatty acid 2-hydroxylase
- Synonym(s) : FAAH, fatty acid hydroxylase, FLJ25287
- Previous symbols and names : FAXDC1, SPG35, fatty acid hydroxylase domain containing 1, spastic paraplegia 35 (autosomal recessive)
- Type : gene with protein product
- Chromosomal location : 16q23.1
- OMIM: 611026
- HGNC: 21197
- UniProtKB: Q7L5A8
- Genatlas: FA2H
- GenCC: FA2H
- Ensembl: ENSG00000103089
- IUPHAR-DB: -
- Reactome: Q7L5A8
- LOVD: FA2H
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive spastic paraplegia type 35
ORPHA:171629 - Disease-causing germline mutation(s) in Fatty acid hydroxylase-associated neurodegeneration
ORPHA:329308

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.