HAX1 (NM_006118) Human Recombinant Protein

• Background:

  The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

• Synonyms:

  HCLSBP1; HS1BP1; SCN3

• Gene ID:

  10456

• UniProt:

  O00165, A0A0S2Z591

• Accession Number mRNA:

  NM_006118

• Chromosomal Location:

  1q21.3

• 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

• Molecular Weight:

  31.4 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:

  HAX1

• Species:

  Human

• Protein ID:

  NP_006109

• Overview:

  Recombinant protein of human HCLS1 associated protein X-1 (HAX1), transcript variant 1

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/10456

• Uniprot URL:

  https://www.uniprot.org/uniprot/O00165

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_006118

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_006109