LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
|
16685654 |
2006 |
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SCP2 mutations and neurodegeneration with brain iron accumulation.
|
26497993 |
2015 |
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
|
16685654 |
2006 |
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
|
16685654 |
2006 |
Malignant neoplasm of breast
|
0.310 |
Biomarker
|
disease |
BEFREE |
The triple negative human breast cancer cell lines MDA-MB231 and its sub-progenies SCP2 and SCP25, SUM159PT, SUM149PT, SUM229PE and SUM1315MO2 were treated with 5 ng/ml TGFβ and the protein expression levels were measured by Western blot.
|
22995475 |
2012 |
Malignant neoplasm of breast
|
0.310 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Polyneuropathy
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
|
16685654 |
2006 |
Polyneuropathy, Motor
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
|
16685654 |
2006 |
Polyneuropathy, Critical Illness
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
|
16685654 |
2006 |
Polyneuropathy, Familial
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
|
16685654 |
2006 |
Acquired Polyneuropathy
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
|
16685654 |
2006 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
|
16685654 |
2006 |
Diabetes Mellitus, Experimental
|
0.200 |
Therapeutic
|
disease |
RGD |
Differential expression of hepatic sterol carrier proteins in the streptozotocin-treated diabetic rat.
|
7628371 |
1995 |
Azoospermia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormal saccadic eye movement
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Primary hypogonadism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of thalamus morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormal motor neuron morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Fatty Liver
|
0.030 |
Biomarker
|
disease |
BEFREE |
Studies in vitro have suggested that both sterol carrier protein-2/sterol carrier protein-x (<i>Scp-2/Scp-x</i>) and liver fatty acid binding protein [<i>Fabp1</i> (L-FABP)] gene products facilitate hepatic uptake and metabolism of lipotoxic dietary phytol.
|
28411199 |
2017 |
Fatty Liver
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Primarily in female mice, hepatic cholesterol accumulation induced by SCP-2 overexpression was associated with increased levels of LDL-receptor, HDL-receptor scavenger receptor-B1 (SR-B1) (as well as PDZK1 and/or membrane-associated protein 17 kDa), SCP-2, liver fatty acid binding protein (L-FABP), and 3alpha-hydroxysteroid dehydrogenase, without alteration of other proteins involved in cholesterol uptake (caveolin), esterification (ACAT2), efflux (ATP binding cassette A-1 receptor, ABCG5/8, and apolipoprotein A1), or oxidation/transport of bile salts (cholesterol 7alpha-hydroxylase, sterol 27alpha-hydroxylase, Na(+)/taurocholate cotransporter, Oatp1a1, and Oatp1a4).
|
19289417 |
2009 |
Fatty Liver
|
0.030 |
Biomarker
|
disease |
BEFREE |
In vitro studies suggest that liver fatty acid binding protein (L-FABP) and sterol carrier protein-2/sterol carrier protein-x (SCP2/SCPx) gene products facilitate uptake and metabolism and detoxification of dietary-derived phytol in mammals.
|
27940000 |
2017 |
Non-alcoholic Fatty Liver Disease
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Based on the results, the promoting effects of EPA-PC on NAFLD may be partly associated with the suppression of cholesterol synthesis via HMGR inhibition and the enhancement of fecal cholesterol excretion through increased SCP2 transcription.
|
28012135 |
2017 |
Non-alcoholic Fatty Liver Disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
Although singly ablating Fabp1 or Scp2/Scpx genes may exacerbate the impact of high fat diet (HFD) on whole body phenotype and non-alcoholic fatty liver disease (NAFLD), concomitant upregulation of the non-ablated gene, preference for ad libitum fed HFD, and sex differences complicate interpretation.
|
29307784 |
2018 |