Recombinant Human AMMECR1 Protein, His-tagged

• Cat.No.: AMMECR1-151H
• Product Overview: Recombinant Human AMMECR nuclear protein 1(AMMECR1), transcript variant 1(NM_015365), with a His tag, was expressed in human cells.

Specification

• Species: Human
• Source: Human Cells
• Tag: His
• Description: The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
• Form: Purified protein formulated in a sterile solution of TBS buffer, pH7.292, without any preservatives.
• Molecular Mass: 35.3 kDa
• Endotoxin: Endotoxin level is < 0.1 ng/µg of protein (<1EU /µg)
• Purity: >90% by SDS-PAGE gel and Coomassie Blue staining
• Applications: Antigens, Western, ELISA and other in vitro binding or in vivo functional assays, and protein-protein interaction studies.

Gene Information

• Gene Name: AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 [ Homo sapiens ]
• Official Symbol: AMMECR1
• Synonyms: AMMECR1; Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1; AMME syndrome candidate gene 1 protein; AMMERC1
• Gene ID: 9949
• mRNA Refseq: NM_001025580
• Protein Refseq: NP_001020751
• MIM: 300195
• UniProt ID: Q9YBYD9