Recombinant Human AMMECR1, His-tagged

• Cat.No.: AMMECR1-9620H
• Product Overview: Recombinant Human AMMECR1 protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• Protein Length: 1-296a.a.
• 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.
• Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
• Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 300mM Imidazole and 0.7% Sarcosyl, 15%glycerol.

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: Q9Y4X0
• Chromosome Location: Xq22.3
• Function: molecular_function