Property Summary

NCBI Gene PubMed Count 27
Grant Count 38
R01 Count 11
Funding $4,148,172.76
PubMed Score 288.16
PubTator Score 42.22

Knowledge Summary

Patent

No data available

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
More...

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.
More...