FA2H Chromosome 16
Fatty acid 2-hydroxylase
Upload your DNA to see your personal genotypes for variants in FA2H.
What This Gene Does
This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Fatty acid hydroxylase domain containing
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000103089
Associated Conditions (11)
Hereditary spastic paraplegia 35
Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia
Spastic ataxia
Intellectual disability
Neurodegeneration with brain iron accumulation
Tip-toe gait
Cerebellar atrophy
See cases
FA2H-related disorder
Key Variants
RS1057518032
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 35, Spastic paraplegia, Hereditary spastic paraplegia 35
Health Risk
RS1204169977
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 35, Spastic paraplegia
Health Risk
RS121918217
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
Health Risk
RS1247665387
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
Health Risk
RS1251854904
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
Health Risk
RS1272032670
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS138892784
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 35, Spastic paraplegia, Hereditary spastic paraplegia 35
Health Risk
RS140017632
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 35, Spastic paraplegia, Hereditary spastic paraplegia 35
Health Risk
RS141276237
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 35, Hereditary spastic paraplegia
Health Risk
RS141854925
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 35, Hereditary spastic paraplegia
Health Risk
RS147632811
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 35, Hereditary spastic paraplegia
Health Risk
RS150423523
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 35, Spastic paraplegia, Hereditary spastic paraplegia 35
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1962978296 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1962978958 | Health Risk | Pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 35, Spastic paraplegia |
| RS2144617221 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2144672293 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2144672539 | Health Risk | Pathogenic | Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS2544312267 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2544316320 | Health Risk | Pathogenic | Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS2544316692 | Health Risk | Pathogenic | Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS2544327623 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2544327628 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2544384008 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2544384375 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS387907172 | Health Risk | Pathogenic | Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS587776891 | Health Risk | Pathogenic | Hereditary spastic paraplegia 35, Spastic paraplegia, Hereditary spastic paraplegia 35 |
| RS759947457 | Health Risk | Pathogenic | Hereditary spastic paraplegia 35, Spastic paraplegia, Hereditary spastic paraplegia 35 |
| RS763075924 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS765086319 | Health Risk | Pathogenic | Inborn genetic diseases, Hereditary spastic paraplegia, Hereditary spastic paraplegia 35 |
| RS794729215 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia, Spastic paraplegia |
| RS878855083 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1210045384 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS1268722908 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 35, Spastic paraplegia, Hereditary spastic paraplegia 35 |
| RS1429546236 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 35, Spastic paraplegia |
| RS1463651673 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 35, Spastic paraplegia |
| RS1567633766 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS1597556143 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 35, Spastic paraplegia, Hereditary spastic paraplegia 35 |
| RS1961700181 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 35, Spastic paraplegia |
| RS2144601954 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS2544344603 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS372350326 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Inborn genetic diseases, Hereditary spastic paraplegia 35 |
| RS372445274 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia 35, Spastic paraplegia |
| RS753097023 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 35, Spastic paraplegia, Hereditary spastic paraplegia 35 |
| RS915291720 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Neurodegeneration with brain iron accumulation, Spastic paraplegia |
| RS957683798 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |