AMMECR1 (NM_015365) Human Recombinant Protein

• Background:

  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. [provided by RefSeq, Jan 2010]

• Synonyms:

  AMMERC1; MFHIEN

• Gene ID:

  9949

• UniProt:

  Q9Y4X0, A0A0S2Z4X0

• Accession Number mRNA:

  NM_015365

• Chromosomal Location:

  Xq23

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Function:

  Druggable Genome

• Molecular Weight:

  35.3 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  AMMECR1

• Species:

  Human

• Protein ID:

  NP_056180

• Overview:

  Purified recombinant protein of Homo sapiens Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1), transcript variant 1

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/9949

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q9Y4X0

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_015365

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_056180