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Fatty acid 2-hydroxylase

fatty acid 2-hydroxylase, FA2H, FAH1, SCS7, ferulate-5-hydroxylase, FAHI
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] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, AGE, STEP
Papers on fatty acid 2-hydroxylase
Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.
Milward et al., Newcastle, Australia. In Mol Psychiatry, Feb 2016
n ≥5/group) for five other NBIA genes, phospholipase A2 group VI, fatty acid 2-hydroxylase, ceruloplasmin, chromosome 19 open reading frame 12 and ATPase type 13A2.
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Orlacchio et al., Roma, Italy. In Brain, Jan 2016
Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
The Crystal Structure of an Integral Membrane Fatty Acid α-Hydroxylase.
Malkowski et al., Buffalo, United States. In J Biol Chem, Jan 2016
Over 50% of GalCer and sulfatide in myelin is hydroxylated by the integral membrane enzyme fatty acid 2-hydroxylase (FA2H).
Alteration of complex sphingolipid composition and its physiological significance in yeast Saccharomyces cerevisiae lacking vacuolar ATPase.
Toume et al., Fukuoka, Japan. In Microbiology, Dec 2015
Loss of MIPC synthesis or an increase in the hydroxylation level of the ceramide moiety of sphingolipids on overexpression of Scs7 and Sur2 sphingolipid hydroxylases enhanced the growth defect of V-ATPase-deleted cells at pH 7.2.
Hypoxia remodels the composition of the constituent ceramide species of HexCer and Hex2Cer with phytosphingosine and hydroxy fatty acids in human colon cancer LS174T cells.
Kyogashima et al., Nagoya, Japan. In Glycoconj J, Nov 2015
Oxygen-requiring enzymes, such as Δ4-desaturase (dihydroceramide desaturase), sphingolipid Δ4-desaturase/C-4-hydroxylase, and fatty acid 2-hydroxylase are involved in ceramide synthesis.
Loss of FERULATE 5-HYDROXYLASE Leads to Mediator-Dependent Inhibition of Soluble Phenylpropanoid Biosynthesis in Arabidopsis.
Chapple et al., West Lafayette, United States. In Plant Physiol, Nov 2015
In contrast, the ferulic acid hydroxylase1 (fah1) mutant accumulates greatly reduced levels of HCEs, suggesting that phenylpropanoid biosynthesis may be repressed in response to the loss of FERULATE 5-HYDROXYLASE (F5H) activity.
Manipulation of Guaiacyl and Syringyl Monomer Biosynthesis in an Arabidopsis Cinnamyl Alcohol Dehydrogenase Mutant Results in Atypical Lignin Biosynthesis and Modified Cell Wall Structure.
Chapple et al., Uji, Japan. In Plant Cell, Aug 2015
cadc cadd, fah1 cadc cadd, and cadd F5H-overexpressing plants have increased enzyme-catalyzed cell wall digestibility.
Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.
Wray et al., London, United Kingdom. In Neuropathol Appl Neurobiol, May 2015
Mutations in 10 genes have been associated with NBIA that include Ceruloplasmin (Cp) and ferritin light chain (FTL), both directly involved in iron homeostasis, as well as Pantothenate Kinase 2 (PANK2), Phospholipase A2 group 6 (PLA2G6), Fatty acid hydroxylase 2 (FA2H), Coenzyme A synthase (COASY), C19orf12, WDR45 and DCAF17 (C2orf37).
Producing human ceramide-NS by metabolic engineering using yeast Saccharomyces cerevisiae.
Funato et al., Hiroshima, Japan. In Sci Rep, 2014
In this study, we successfully developed a system that produces sphingosine-containing human ceramide-NS in the yeast Saccharomyces cerevisiae by eliminating the genes for yeast sphingolipid hydroxylases (encoded by SUR2 and SCS7) and introducing the gene for a human sphingolipid desaturase (encoded by DES1).
Genome-Wide Screening of mRNA Expression in Leprosy Patients.
Soares et al., São Paulo, Brazil. In Front Genet, 2014
Some of these genes were observed in all forms of the disease (CD2, CD27, chit1, FA2H, FAM26F, GZMB, MMP9, SLAMF7, UBD) and others were exclusive to reactional forms (Type "1" reaction: GPNMB, IL1B, MICAL2, FOXQ1; Type "2" reaction: AKR1B10, FAM180B, FOXQ1, NNMT, NR1D1, PTX3, TNFRSF25).
Adherence of Candida sp. to host tissues and cells as one of its pathogenicity features.
Kurnatowski et al., Łódź, Poland. In Ann Parasitol, 2014
Various researchers specify a range of genes which contribute to adhesion, such as: CZF1, EFG1, TUP1, TPK1, TPK2, HGC1, RAS1, RIM101, VPS11, ECM1, CKA2, BCR1, BUD2, RSR1, IRS4, CHS2, SCS7, UBI4, UME6, TEC1 and GAT2.
Meta-analysis derived atopic dermatitis (MADAD) transcriptome defines a robust AD signature highlighting the involvement of atherosclerosis and lipid metabolism pathways.
Suárez-Fariñas et al., New York City, United States. In Bmc Med Genomics, 2014
We identified wide lipid abnormalities and, for the first time in vivo, correlated Th2 immune activation with downregulation of key epidermal lipids (FA2H, FAR2, ELOVL3), emphasizing the role of cytokines on the barrier disruption in AD.
2'-Hydroxy ceramide in membrane homeostasis and cell signaling.
Hama et al., Charleston, United States. In Adv Biol Regul, 2014
Fatty acid 2-hydroxylase (FA2H) is one of the enzymes that introduce the hydroxyl group during de novo synthesis of ceramide.
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.
Finazzi et al., Milano, Italy. In Front Pharmacol, 2013
In the other forms the connection with iron metabolism is not evident at all and the genetic data let infer the involvement of other pathways: Pank2, Pla2G6, C19orf12, COASY, and FA2H genes seem to be related to lipid metabolism and to mitochondria functioning, WDR45 and ATP13A2 genes are implicated in lysosomal and autophagosome activity, while the C2orf37 gene encodes a nucleolar protein of unknown function.
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Fink, Ann Arbor, United States. In Acta Neuropathol, 2013
SPG28/DDHD1, SPG35/FA2H, SPG39/NTE, SPG54/DDHD2, and SPG56/CYP2U1); and (8) endosome membrane trafficking and vesicle formation (e.g.
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
Tiranti et al., Milano, Italy. In Semin Pediatr Neurol, 2012
This study did not find any mutations in the FA2H gene in patients with neurodegeneration with brain iron accumulation.
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Franzoni et al., Bologna, Italy. In Dev Med Child Neurol, 2011
a novel homozygous c.270+3A>T mutation altered FA2H function led to a severe phenotype, with clinical features overlapping those in three FA2H-associated disorders
Normal fur development and sebum production depends on fatty acid 2-hydroxylase expression in sebaceous glands.
Eckhardt et al., Germany. In J Biol Chem, 2011
the importance of the sebaceous glands and a role of specific sebaceous gland or sebum lipids, synthesized by FA2H, in the hair follicle homeostasis
Central nervous system dysfunction in a mouse model of FA2H deficiency.
Hama et al., Charleston, United States. In Glia, 2011
This study provided the first evidence that FA2H has an important function outside of oligodendrocytes in the Central nervous system.
2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.
Saada et al., Jerusalem, Israel. In Lipids Health Dis, 2010
The 2-hydroxylated sphingomyelin (SM) profiles were characterized in blood and fibroblasts from patients harboring a deleterious FA2H mutation.
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