Property Summary

NCBI Gene PubMed Count 27
PubMed Score 288.16
PubTator Score 42.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Expression

Gene RIF (17)

PMID Text
25496456 Novel mutations in FA2H in Arab patients with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis were identified.
25291031 Induced levels of PPARalpha may be involved in the Delta(9)-THC up-regulation of FA2H in MDA-MB-231 cells.
24359114 Three novel mutations in Chinese patients significantly reduce FA2H enzyme activity leading to hereditary spastic paraplegia.
24299421 One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment, axial T2-FLAIR weighted MRI posterior periventricular white matter lesions.
23566484 Identification of a novel triple heterozygous mutations in FA2H gene (c.968C>A; c.976G>A; c.688G>A) in a Chinese family with Hereditary Spastic Paraplegia Type 35.
23535410 FA2H is a novel (9)-THC-regulated gene, and that (9)-THC induces differentiation signal(s) in poorly differentiated MDA-MB-231 cells.
22925154 we report a novel mutation in FA2H gene in two sibs presenting with adult onset complicated spastic paraparesis and thin corpus callosum
22704260 This study did not find any mutations in the FA2H gene in patients with neurodegeneration with brain iron accumulation.
21599921 The 2-hydroxylated sphingomyelin (SM) profiles were characterized in blood and fibroblasts from patients harboring a deleterious FA2H mutation.
21592092 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
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20104589 Mutations in FA2H are associated with hereditary spastic paraplegia.
19844255 Observational study of gene-disease association. (HuGE Navigator)
19834535 Observational study of gene-disease association. (HuGE Navigator)
19068277 Mutations in FA2H are associated with leukodystrophy with spastic paraparesis and dystonia.
17355976 late differentiation-linked increases in FA2H expression are essential for epidermal permeability barrier homeostasis.
15337768 the human FA2H gene encodes a fatty acid 2-hydroxylase involved in the formation of myelin 2-hydroxy galactosylceramides and -sulfatides

AA Sequence

MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISADLDGPPHRHS      1 - 70
ANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWDKDLVDWRKPLLWQVGHLGEK     71 - 140
YDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLVLYLSWSYYRTFAQGNVRLFTSFTTEYTVAV    141 - 210
PKSMFPGLFMLGTFLWSLIEYLIHRFLFHMKPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLV    211 - 280
IGVFYLCMQLILPEAVGGTVFAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGI    281 - 350
STKLWDYCFHTLTPEKPHLKTQ                                                    351 - 372
//

Text Mined References (27)

PMID Year Title
25496456 2015 Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.
25383866 2014 Results of a "GWAS plus:" general cognitive ability is substantially heritable and massively polygenic.
25291031 2014 ?(9)-THC modulation of fatty acid 2-hydroxylase (FA2H) gene expression: possible involvement of induced levels of PPAR? in MDA-MB-231 breast cancer cells.
25086665 2014 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
24359114 2015 SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.
24299421 2013 Heterozygous FA2H mutations in autism spectrum disorders.
23566484 2013 A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.
23535410 2013 Induction of the fatty acid 2-hydroxylase (FA2H) gene by ?(9)-tetrahydrocannabinol in human breast cancer cells.
22925154 2012 Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.
22704260 2012 C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
21599921 2011 2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.
21592092 2011 FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
20853438 2010 Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20104589 2010 Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
19844255 2010 Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
19834535 2009 Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
19068277 2008 Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
18463364 2008 A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.
17355976 2007 Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15337768 2004 The human FA2H gene encodes a fatty acid 2-hydroxylase.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.