Human DGCR6 protein

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Format Purity: 0.95
Format: 10 mM Tris. pH 8.0. 0.002% NaN3. 3mM NaCl. 2.5mM Imidazole.
Species Human
Target/Molecule Synonym DiGeorge syndrome critical region protein 6, DiGeorge syndrome critical region 6
Target Tag/Conjugate Unconjugated
Applications MS, SDS
Source/Expression System E. coli
Category Protein
References [1] Weiner.K.X.. Ciesla.J.. Jaffe.A.B.. Ketring.R.. Maley.F. and Maley.G.F.
Chromosomal location and structural organization of the human deoxycytidylate deaminase gene
[2] Weiner.K.X.. Weiner.R.S.. Maley.F. and Maley.G.F.. et al.
Primary structure of human deoxycytidylate deaminase and overexpression of its functional protein in Escherichia coli
[3] . Weiner K.X.. Weiner R.S.. Maley F.. Maley G.F.
Primary structure of human deoxycytidylate deaminase and overexpression of its functional protein in Escherichia coli.
[4] . Weiner K.X.. Ciesla J.. Jaffe A.B.. Ketring R.. Maley F.. Maley G.F.
Chromosomal location and structural organization of the human deoxycytidylate deaminase gene.
[5] . Strausberg R.L.. Feingold E.A.. Grouse L.H.. Derge J.G.. Klausner R.D.. Collins F.S.. Wagner L.. Shenmen C.M.. Schuler G.D.. Altschul S.F.. et al.
Generation and initial analysis of more than 15.000 full-length human and mouse cDNA sequences.
[6] . Rush J.. Moritz A.. Lee K.A.. Guo A.. Goss V.L.. Spek E.J.. Zhang H.. Zha X.-M.. Polakiewicz R.D.. Comb M.J.. et al.
Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.
Molecule Name DGCR6 protein
Accession Number NCBI Accession Number: NP_005666.2
Swiss Protein Accession Number: Q14129
Original Item Name DGCR6 protein
Unit 0.05 mg
Description Function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.Subcellular Location: Nucleus. Predominantly.Tissue Specificity: Found in all tissues examined with highest expression in liver. heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain.Induction: Increased levels in several tumor cell lines. including lung and colon adenocarcinomas and mammary carcinomas. Strongly induced in Burkitt's lymphoma and lymphocytes transformed by EBV.Disease: May play a part in the etiology of the velocardiofacial/DiGeorge syndrome (VCFS/DGS). a developmental disorder characterized by structural and functional palate anomalies. conotruncal cardiac malformations. immunodeficiency. hypocalcemia. and typical facial anomalies. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region. or DGCR).Similarity: Belongs to the gonadal family.Summary: DiGeorge syndrome. and more widely. the CATCH 22 syndrome. are associated with microdeletions in chromosomal region 22q11.2. This protein product shares homology with the Drosophila melanogaster gonadal protein. which participates in gonadal and germ cell development. and with the human laminin gamma-1 chain. which upon polymerization with alpha- and beta-chains forms the laminin molecule. Laminin binds to cells through interaction with a receptor and has functions in cell attachment. migration. and tissue organization during development. This protein could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches. the structures from which derive the organs affected in DiGeorge syndrome. Entry Name: DGCR6_HUMAN Sequence Position 1: 1 Sequence Position 2: 220 Length (aa): 220 MW: 24989 OMIM: 601279; gene. [ NCBI / EBI] Applications: MS. SDS Applications Not Tested: ELISA, Western Blot Testing Protocols: SDS: Analysis of DGCR6 Recombinant Protein. 4-20% SDS gradient gel. Coomassie blue staining.||10-288-22080F_SD Storage: -70°C. Avoid frequent freeze and thaw. Stability: 6-12 months at -70°C. Fusion: His-Tag at N-terminus.