FA2H

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Fatty acid 2-hydroxylase
Identifiers
Symbols FA2H ; FAAH; FAH1; FAXDC1; SCS7; SPG35
External IDs OMIM611026 HomoloGene56284 GeneCards: FA2H Gene
Orthologs
Species Human Mouse
Entrez 79152 338521
Ensembl ENSG00000103089 ENSMUSG00000033579
UniProt Q7L5A8 Q5MPP0
RefSeq (mRNA) NM_024306 NM_178086
RefSeq (protein) NP_077282 NP_835187
Location (UCSC) Chr 16:
74.75 – 74.81 Mb
Chr 8:
111.35 – 111.39 Mb
PubMed search [1] [2]

Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.[1]

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.[1]

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[1] as well as fatty acid hydroxylase-associated neurodegeneration.[2]

References[edit]

  1. ^ a b c "Entrez Gene: Fatty acid 2-hydroxylase". Retrieved 2011-12-30. 
  2. ^ 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]