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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]
FA2H (Fatty Acid 2-Hydroxylase) is a Protein Coding gene. Diseases associated with FA2H include Spastic Paraplegia 35, Autosomal Recessive and Leukodystrophy. Among its related pathways are fatty acid alpha-oxidation III and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and heme binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005506 | iron ion binding | IEA | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0020037 | heme binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0080132 | fatty acid alpha-hydroxylase activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IBA | 21873635 |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA,IDA | 15337768 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0031090 | organelle membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Sphingolipid metabolism | ||
3 | fatty acid alpha-oxidation III |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001949 | sebaceous gland cell differentiation | IEA | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IBA | 21873635 |
GO:0006633 | fatty acid biosynthetic process | IEA | -- |
GO:0006665 | sphingolipid metabolic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
WWL 70 | α/β-hydrolase domain 6 inhibitor | 947669-91-2 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FA2H 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FA2H 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FA2H 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fa2h 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fa2h 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FA2H 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FA2H 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FA2H 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FA2H 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fa2h 30 |
|
||
Str.7662 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398669 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fa2h 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | fa2h 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | CELE_C25A1.5 30 |
|
||
C25A1.5 31 |
|
OneToOne | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAL183W 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SCS7 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D01639g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | FAH1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0628400 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03492 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
650055 | Uncertain Significance: Spastic paraplegia | 74,719,056(-) | T/C | MISSENSE_VARIANT | |
652128 | Uncertain Significance: Spastic paraplegia | 74,726,248(-) | C/T | MISSENSE_VARIANT | |
655132 | Uncertain Significance: Spastic paraplegia | 74,774,706(-) | T/C | MISSENSE_VARIANT | |
680134 | Benign: not provided | 74,719,181(-) | C/T | INTRON_VARIANT | |
695868 | Likely Benign: not provided | 74,726,253(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2662423 | CNV | deletion | 23128226 |
esv2714701 | CNV | deletion | 23290073 |
esv3425523 | CNV | insertion | 20981092 |
nsv457520 | CNV | gain | 19166990 |
nsv517513 | CNV | loss | 19592680 |
nsv572976 | CNV | gain | 21841781 |
nsv952054 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 35, autosomal recessive |
|
|
leukodystrophy |
|
|
paraplegia |
|
|
spastic paraparesis |
|
|
neurodegeneration with brain iron accumulation |
|
|