FA2H

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FA2H
Identifiers
Aliases FA2H, FAAH, FAH1, FAXDC1, SCS7, SPG35, fatty acid 2-hydroxylase
External IDs MGI: 2443327 HomoloGene: 56284 GeneCards: 79152
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024306

NM_178086

RefSeq (protein)

NP_077282.3

NP_835187.2

Location (UCSC) Chr 16: 74.71 – 74.77 Mb Chr 8: 111.35 – 111.39 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.[3]

Function[edit]

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.[3]

Mechanism of 2-hydroxylated sphingolipid generation. Essentially they are generated like their non-hydroxylated counterparts. The only difference is that fatty acids are hydroxylated by fatty acid 2-hydroxylase (FA2H) before being incorporated into dihydroceramide by ceramide synthases (CerS).

Clinical significance[edit]

Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia[3] as well as fatty acid hydroxylase-associated neurodegeneration.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b c "Entrez Gene: Fatty acid 2-hydroxylase". Retrieved 2011-12-30. 
  4. ^ Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Blackstone C, Tifft C, Boerkoel CF, Gahl WA (December 2011). "Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration". Eur. J. Hum. Genet. 20 (4): 476–9. doi:10.1038/ejhg.2011.222. PMID 22146942. 

Further reading[edit]