"AMMECR1" Related Products

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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.
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.
Source: E.coli
Species: Human
Tag: His
Protein length: 1-296a.a.
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 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;

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