Property Summary

NCBI Gene PubMed Count 18
Grant Count 24
R01 Count 10
Funding $3,198,669.15
PubMed Score 278.92
PubTator Score 2.85

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Gene RIF (6)

PMID Text
26464032 The rs10056340 single nucleotide polymorphism was significantly associated with atopic dermatitis.
26168012 Data indicate four families with recessive mutations in solute carrier family 25 member 46 protein (SLC25A46).
23879873 Rs17132261 was associated with left ventricular hypertrophy in type 2 diabetic patients.
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19584346 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MHPRRPDGFDGLGYRGGARDEQGFGGAFPARSFSTGSDLGHWVTTPPDIPGSRNLHWGEKSPPYGVPTTS      1 - 70
TPYEGPTEEPFSSGGGGSVQGQSSEQLNRFAGFGIGLASLFTENVLAHPCIVLRRQCQVNYHAQHYHLTP     71 - 140
FTVINIMYSFNKTQGPRALWKGMGSTFIVQGVTLGAEGIISEFTPLPREVLHKWSPKQIGEHLLLKSLTY    141 - 210
VVAMPFYSASLIETVQSEIIRDNTGILECVKEGIGRVIGMGVPHSKRLLPLLSLIFPTVLHGVLHYIISS    211 - 280
VIQKFVLLILKRKTYNSHLAESTSPVQSMLDAYFPELIANFAASLCSDVILYPLETVLHRLHIQGTRTII    281 - 350
DNTDLGYEVLPINTQYEGMRDCINTIRQEEGVFGFYKGFGAVIIQYTLHAAVLQITKIIYSTLLQNNI      351 - 418
//

Text Mined References (25)

PMID Year Title
27430653 2016 SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.
27390132 2016 SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
26951855 2017 Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
26464032 2015 Association analysis of allergic sensitization susceptibility loci with atopic dermatitis in Chinese population.
26168012 2015 Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
25416956 2014 A proteome-scale map of the human interactome network.
24388013 2014 Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23879873 2013 Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis.
23817571 2013 Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
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