Defective BTD causes biotidinase deficiency
gene
reagent
sample publication
sample review
ACACA
acetyl-CoA carboxylase alpha
total:17
Signaling kinase AMPK activates stress-promoted transcription via histone H2B phosphorylation. 2010 to the paper
Upstate Biotechnologies anti-ACC1 S79ph antibody was used to carry out western blot analysis in order to investigate the mechanism for AMP-activated protein kinase regulating cellular responses to metabolic stress. more
ACP5
acid phosphatase 5, tartrate resistant
total:1
Increased tartrate-resistant acid phosphatase (TRAP) expression in malignant breast, ovarian and melanoma tissue: an investigational study. 2006 to the paper
Novocastra Laboratories Ltd. TRAP monoclonal antibody against against the N-terminal portion of human TRAP (clone: 26E5, subtype: IgG2b) was used in immunocytochemistry and immunohistochemistry to study the TRAP expression in various malignant and benign breast, ovarian, and melanoma tissues.
biotinidase
total:1
Differential profiling of breast cancer plasma proteome by isotope-coded affinity tagging method reveals biotinidase as a breast cancer biomarker. 2010 to the paper
GeneTex anti-BTB antibody was used to perform western blot in order to reveal that biotinidase was a breast cancer biomarker by isotope-coded affinity tagging method.
CYB5A
cytochrome b5 type A
total:2
Cytochrome b5 expression in gonadectomy-induced adrenocortical neoplasms of the domestic ferret (Mustela putorius furo). 2008 to the paper
Santa Cruz Biotechnology rabbit anti-human cyt b5 antibody was used in immunohistochemistry at 1:200 dilution in order to demonstrate that that cyt b5 is upregulated during gonadectomy-induced adrenocortical neoplasia and is a marker of androgen synthetic potential in these tumors more
dihydrofolate reductase
total:1
Identification of amino acids required for the functional up-regulation of human dihydrofolate reductase protein in response to antifolate Treatment. 2005 to the paper
Research Genetics/Invitrogen rabbit anti-human DHFR polyclonal antibody was used in western blot to study the essential of identification of amino acids for the functional up-regulation of human dihydrofolate reductase protein in response to antifolate treatment.
fatty acid synthase
total:6
Fatty acid synthase expression in cutaneous melanocytic neoplasms. 2005 to the paper
Immuno-Biological Laboratories anti-fatty acid synthase antibody was used in immunohistochemistry to study expression of fatty acid synthase in cutaneous melanocytic neoplasms. more
gephyrin
total:4
Alpha-synuclein promotes SNARE-complex assembly in vivo and in vitro. 2010 to the paper
SYSY monoclonal anti-gephyrin antibody was used to carry out western blot analysis in order to determine the atomic structure of human adenovirus. more
GLUT1
solute carrier family 2 member 1
total:23
Glucose deprivation contributes to the development of KRAS pathway mutations in tumor cells. 2009 to the paper
Abcam rabbit polyclonal anti-GLUT1 antibody was used to perform immunoblot in order to study the roles of the glucose deprivation during the development of KRAS pathway mutation. more
holocarboxylase synthetase
total:1
Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19. 2009 to the paper
Vector Laboratories primary anti-FLAG BioM2 antibody was used to do western blot analysis in order to study the preferential expression of the arylsulfatase I (ARSI) gene in retinal pigment epithelium cell line ARPE-19.
LYS5
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
MTHFD1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
NMNAT1
nicotinamide nucleotide adenylyltransferase 1
NMNAT3
nicotinamide nucleotide adenylyltransferase 3
PCCA
propionyl-CoA carboxylase subunit alpha
PPCDC
phosphopantothenoylcysteine decarboxylase
SLC19A2
solute carrier family 19 member 2
total:2
TRE-dependent transcription activation by JDP2-CHOP10 association. 2008 to the paper
Santa Cruz THTR1 polyclonal antibody was used in ChIP assays in order to identify CHOP10 as a novel protein associating protein for JDP2 more
SLC19A3
solute carrier family 19 member 3
total:1
Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms. 2005 to the paper
Sigma-Genosys polyclonal anti-hTHTR-2 antibody was used in western blot to study the association of intestinal thiamin uptake with differentiation.
SLC2A3
solute carrier family 2 member 3
total:2
Essential role of glucose transporter GLUT3 for post-implantation embryonic development. 2009 to the paper
Santa Cruz Biotechnology Goat anti-GLUT3 antibody was used in immunostaining of blastocysts in order to indicate that GLUT3 is important in early embryonic development. more
SLC5A6
solute carrier family 5 member 6
visfatin
nicotinamide phosphoribosyltransferase
total:1
Deleted in breast cancer-1 regulates SIRT1 activity and contributes to high-fat diet-induced liver steatosis in mice. 2010 to the paper
Bethyl Laboratories NAMPT antibody was used for western blot in order to investigate the role of DBC1 in the regulation of SIRT1 activity and high-fat diet induced liver steatosis in mice.