FA2H Gene (Protein Coding)

Fatty Acid 2-Hydroxylase

GC16M074746
GIFtS:
45
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 g... See more...

Aliases for FA2H Gene

Aliases for FA2H Gene

  • Fatty Acid 2-Hydroxylase 2 3 4 5
  • Spastic Paraplegia 35 (Autosomal Recessive) 2 3
  • Fatty Acid Hydroxylase Domain Containing 1 2 3
  • Fatty Acid Alpha-Hydroxylase 3 4
  • FAXDC1 3 4
  • FAAH 3 4
  • Fatty Acid Hydroxylase Domain-Containing Protein 1 4
  • Fatty Acid Hydroxylase 2
  • EC 1.14.18.- 4
  • SPG35 3
  • FAH1 3
  • SCS7 3

External Ids for FA2H Gene

Previous HGNC Symbols for FA2H Gene

  • FAXDC1
  • SPG35

Previous GeneCards Identifiers for FA2H Gene

  • GC16M074526
  • GC16M073304
  • GC16M060496

Summaries for FA2H Gene

Entrez Gene Summary for FA2H Gene

  • 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]

GeneCards Summary for FA2H Gene

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 Sphingolipid metabolism and fatty acid alpha-oxidation III. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and heme binding.

UniProtKB/Swiss-Prot Summary for FA2H Gene

  • Catalyzes stereospecific hydroxylation of free fatty acids at the C-2 position to produce (R)-2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:17355976, PubMed:22517924, PubMed:15863841, PubMed:15337768). Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath (By similarity). Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier (PubMed:17355976). Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters in sebaceous gland, specifically regulating hair follicle homeostasis (By similarity). Involved in the synthesis of sphingolipids of plasma membrane rafts, controlling lipid raft mobility and trafficking of raft-associated proteins (By similarity).

Gene Wiki entry for FA2H Gene

Additional gene information for FA2H Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FA2H Gene

Genomics for FA2H Gene

GeneHancer (GH) Regulatory Elements for FA2H Gene

Promoters and enhancers for FA2H Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J074773 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 509.5 +0.3 338 2.2 CTCF NRF1 ZIC2 ZNF423 ZBTB26 TARDBP REST KLF4 ZBTB25 CHD1 FA2H WDR59 piR-42694-063
GH16J074740 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.9 +31.6 31637 5.1 ZNF217 TCF12 FOS ZNF639 ZNF10 ZIC2 POLR2A ZNF423 TRIM28 KLF4 FA2H ENSG00000261079 ENSG00000259972 NPIPB15 ADAT1 MLKL WDR59 ENSG00000260884 RNU6-237P RFWD3
GH16J074729 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.4 +40.2 40180 11.3 ZNF217 TEAD4 ZIC2 KDM6A KLF4 EP300 TEAD1 GATAD2B CTBP1 ZNF341 FA2H MLKL RFWD3 piR-42694-063
GH16J074812 Enhancer 1.1 Ensembl ENCODE 19.9 -38.3 -38270 1.4 ZNF217 CTCF MYC TEAD4 REST ZBTB25 TGIF2 RAD21 CTBP1 ZBTB7A FA2H WDR59 NPIPB15 piR-49423-098 lnc-ZNRF1-3
GH16J074724 Enhancer 0.9 Ensembl ENCODE dbSUPER 21.7 +49.1 49055 3.1 CTCF FOS RFX1 CTBP1 TRIM28 RAD21 DPF2 BHLHE40 CBX5 SMC3 FA2H MLKL RFWD3 piR-42694-063
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FA2H on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FA2H

Top Transcription factor binding sites by QIAGEN in the FA2H gene promoter:
  • c-Myc
  • CP2
  • E47
  • Egr-1
  • Egr-4
  • Max
  • MIF-1
  • MyoD
  • PPAR-alpha
  • YY1

Genomic Locations for FA2H Gene

Genomic Locations for FA2H Gene
chr16:74,712,955-74,774,831
(GRCh38/hg38)
Size:
61,877 bases
Orientation:
Minus strand
chr16:74,746,853-74,808,729
(GRCh37/hg19)
Size:
61,877 bases
Orientation:
Minus strand

Genomic View for FA2H Gene

Genes around FA2H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FA2H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FA2H Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FA2H Gene

Proteins for FA2H Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FA2H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L5A8-FA2H_HUMAN
    Recommended name:
    Fatty acid 2-hydroxylase
    Protein Accession:
    Q7L5A8
    Secondary Accessions:
    • B7Z8T6
    • O75213
    • Q96DK1
    • Q9H1A5

    Protein attributes for FA2H Gene

    Size:
    372 amino acids
    Molecular mass:
    42791 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC23496.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for FA2H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FA2H Gene

Protein Expression for FA2H Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FA2H Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FA2H Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FA2H Gene

Domains & Families for FA2H Gene

Gene Families for FA2H Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FA2H Gene

Blocks:
  • Cytochrome b5
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FA2H Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52926, highly similar to Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA (B7Z8T6_HUMAN)
  • Fatty acid alpha-hydroxylase (FA2H_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L5A8

UniProtKB/Swiss-Prot:

FA2H_HUMAN :
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the sterol desaturase family. SCS7 subfamily.
Domain:
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • The N-terminal cytochrome b5 heme-binding domain is essential for catalytic activity.
Family:
  • Belongs to the sterol desaturase family. SCS7 subfamily.
genes like me logo Genes that share domains with FA2H: view

Function for FA2H Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for FA2H Gene

UniProtKB/Swiss-Prot Function:
Catalyzes stereospecific hydroxylation of free fatty acids at the C-2 position to produce (R)-2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:17355976, PubMed:22517924, PubMed:15863841, PubMed:15337768). Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath (By similarity). Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier (PubMed:17355976). Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters in sebaceous gland, specifically regulating hair follicle homeostasis (By similarity). Involved in the synthesis of sphingolipids of plasma membrane rafts, controlling lipid raft mobility and trafficking of raft-associated proteins (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(II)-cytochrome b5] + a 1,2-saturated fatty acid + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + a (R)-2-hydroxy fatty acid + H2O; Xref=Rhea:RHEA:38855, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:76177, ChEBI:CHEBI:83955; Evidence={ECO:0000269 PubMed:15337768, ECO:0000269 PubMed:15863841, ECO:0000269 PubMed:22517924};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=KM<0.18 uM for tetracosanoic acid. {ECO:0000269 PubMed:15863841}; pH dependence: Optimum pH is 7.6-7.8. {ECO:0000269 PubMed:15863841};
UniProtKB/Swiss-Prot Induction:
Up-regulated during keratinocyte differentiation.

Enzyme Numbers (IUBMB) for FA2H Gene

Phenotypes From GWAS Catalog for FA2H Gene

Gene Ontology (GO) - Molecular Function for FA2H Gene

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 --
genes like me logo Genes that share ontologies with FA2H: view
genes like me logo Genes that share phenotypes with FA2H: view

Human Phenotype Ontology for FA2H Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FA2H Gene

MGI Knock Outs for FA2H:
  • Fa2h Fa2h<tm1.1Hama>
  • Fa2h Fa2h<tm1Meck>

Animal Model Products

CRISPR Products

miRNA for FA2H Gene

miRTarBase miRNAs that target FA2H

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for FA2H Gene

Localization for FA2H Gene

Subcellular locations from UniProtKB/Swiss-Prot for FA2H Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FA2H gene
Compartment Confidence
endoplasmic reticulum 4
mitochondrion 3
plasma membrane 2
peroxisome 2
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FA2H Gene

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 --
genes like me logo Genes that share ontologies with FA2H: view

Pathways & Interactions for FA2H Gene

genes like me logo Genes that share pathways with FA2H: view

Pathways by source for FA2H Gene

1 BioSystems pathway for FA2H Gene

UniProtKB/Swiss-Prot Q7L5A8-FA2H_HUMAN

  • Pathway: Lipid metabolism; fatty acid metabolism.
  • Pathway: Sphingolipid metabolism; galactosylceramide biosynthesis.

Gene Ontology (GO) - Biological Process for FA2H Gene

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:0006679 glucosylceramide biosynthetic process ISS,IEA --
genes like me logo Genes that share ontologies with FA2H: view

No data available for SIGNOR curated interactions for FA2H Gene

Drugs & Compounds for FA2H Gene

Products:

  1. Drug

(3) Drugs for FA2H Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1496
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0
heme Pharma Agonist 0

(1) Additional Compounds for FA2H Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for FA2H Gene

Compound Action Cas Number
WWL 70 α/β-hydrolase domain 6 inhibitor 947669-91-2
genes like me logo Genes that share compounds with FA2H: view

Drug Products

Transcripts for FA2H Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FA2H Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FA2H Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7
SP1: -
SP2:
SP3:

Relevant External Links for FA2H Gene

GeneLoc Exon Structure for
FA2H

Expression for FA2H Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FA2H Gene

mRNA expression in normal human tissues for FA2H Gene
mRNA expression by GTEx for FA2H GenemRNA expression by BioGPS for FA2H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FA2H Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x14.0) and Brain - Substantia nigra (x6.0).

Protein differential expression in normal tissues from HIPED for FA2H Gene

This gene is overexpressed in Frontal cortex (46.9), Stomach (15.9), and Spinal cord (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FA2H Gene



Protein tissue co-expression partners for FA2H Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FA2H

SOURCE GeneReport for Unigene cluster for FA2H Gene:

Hs.461329

mRNA Expression by UniProt/SwissProt for FA2H Gene:

Q7L5A8-FA2H_HUMAN
Tissue specificity: Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes (PubMed:17355976). Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney (PubMed:15337768).

Evidence on tissue expression from TISSUES for FA2H Gene

  • Stomach(4.3)
  • Intestine(4.1)
  • Pancreas(4.1)
  • Nervous system(3.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FA2H Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Pelvis:
  • urethra
  • urinary bladder
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with FA2H: view

Orthologs for FA2H Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FA2H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia FA2H 31 30
  • 98.04 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia FA2H 31 30
  • 85.13 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia FA2H 31 30
  • 85.12 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Fa2h 17 31 30
  • 85.1 (n)
rat
(Rattus norvegicus)
 Mammalia Fa2h 30
  • 84.73 (n)
oppossum
(Monodelphis domestica)
 Mammalia FA2H 31
  • 69 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FA2H 31
  • 58 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FA2H 31 30
  • 72.25 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia FA2H 31
  • 65 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fa2h 30
  • 62.93 (n)
Str.7662 30
African clawed frog
(Xenopus laevis)
 Amphibia LOC398669 30
zebrafish
(Danio rerio)
 Actinopterygii fa2h 31
  • 56 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta fa2h 31 30
  • 53.35 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea CELE_C25A1.5 30
  • 47.33 (n)
C25A1.5 31
  • 41 (a)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AAL183W 30
  • 49.07 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SCS7 33 31 30
  • 45.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D01639g 30
  • 45.04 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons FAH1 30
  • 51.17 (n)
rice
(Oryza sativa)
 Liliopsida Os12g0628400 30
  • 52.7 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU03492 30
  • 51.78 (n)
Species where no ortholog for FA2H was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FA2H Gene

ENSEMBL:
Gene Tree for FA2H (if available)
TreeFam:
Gene Tree for FA2H (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FA2H: view image

Paralogs for FA2H Gene

(3) SIMAP similar genes for FA2H Gene using alignment to 4 proteins:

  • FA2H_HUMAN
  • B7Z8T6_HUMAN
  • H3BP32_HUMAN
  • J3QS89_HUMAN
genes like me logo Genes that share paralogs with FA2H: view

No data available for Paralogs for FA2H Gene

Variants for FA2H Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FA2H Gene

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

Additional dbSNP identifiers (rs#s) for FA2H Gene

Structural Variations from Database of Genomic Variants (DGV) for FA2H Gene

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

Variation tolerance for FA2H Gene

Residual Variation Intolerance Score: 32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FA2H Gene

Human Gene Mutation Database (HGMD)
FA2H
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FA2H

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FA2H Gene

Disorders for FA2H Gene

MalaCards: The human disease database

(45) MalaCards diseases for FA2H Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 35, autosomal recessive
  • spg35
leukodystrophy
  • leukodystrophies
paraplegia
  • paraplegia, lower
spastic paraparesis
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards
Search FA2H in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FA2H_HUMAN
  • Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. {ECO:0000269 PubMed:19068277, ECO:0000269 PubMed:20104589, ECO:0000269 PubMed:20853438}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FA2H

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FA2H: view

No data available for Genatlas for FA2H Gene

Publications for FA2H Gene

  1. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). (PMID: 20104589) Dick KJ … Crosby AH (Human mutation 2010) 2 3 4 23 54
  2. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. (PMID: 19068277) Edvardson S … Elpeleg O (American journal of human genetics 2008) 3 4 23 54
  3. Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation. (PMID: 17355976) Uchida Y … Holleran WM (The Journal of biological chemistry 2007) 3 4 23 54
  4. The human FA2H gene encodes a fatty acid 2-hydroxylase. (PMID: 15337768) Alderson NL … Hama H (The Journal of biological chemistry 2004) 3 4 23 54
  5. Stereospecificity of fatty acid 2-hydroxylase and differential functions of 2-hydroxy fatty acid enantiomers. (PMID: 22517924) Guo L … Su X (Journal of lipid research 2012) 3 4 54

ExternalLinks

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