FA2H wt Allele

Preferred Label : FA2H wt Allele;

NCIt synonyms : SPG35; SCS7; FAXDC1; FAH1, S. cerevisiae, Homolog of Gene; Fatty Acid 2-Hydroxylase wt Allele; Fatty Acid Hydroxylase Gene; FAAH; Fatty Acid Hydroxylase Domain Containing 1 Gene; FAH1; SCS7, S. cerevisiae, Homolog of Gene; Spastic Paraplegia 35 (Autosomal Recessive) Gene; FLJ25287;

NCIt definition : Human FA2H wild-type allele is located in the vicinity of 16q23.1 and is approximately 62 kb in length. This allele, which encodes fatty acid 2-hydroxylase protein, is involved in the synthesis of 2-hydroxysphingolipids, which in turn are associated with formation of plasma membrane rafts, hair follicles, the myelin sheath and epidermal lamellar bodies. Mutation of the gene is associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia (autosomal recessive spastic paraplegia 35).;

NCI Metathesaurus CUI : CL1794258;

GenBank Accession Number : BC002679;

Details

Origin ID

C189069;

UMLS CUI

C5702841;

Automatic exact mappings (from CISMeF team)
- Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration [OMIM Phenotype]
- hereditary spastic paraplegia 35 [DO Concept]
OMIM relation
- Fatty acid 2-hydroxylase [OMIM gene]
See also inter- (CISMeF)
- Autosomal recessive spastic paraplegia type 35 [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Fatty acid 2-hydroxylase [OMIM gene]
- Fatty acid amide hydrolase [OMIM gene]
- fatty acid 2-hydroxylase [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q23.1 [NCIt concept]
gene_is_element_in_pathway
- Fatty Acid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Fatty Acid Metabolism [NCIt concept]
- Hydroxylation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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