Recombinant Human Lipopolysaccharide-responsive and beige-like anchor protein (LRBA), partial | CSB-EP013070HU(C)

Recombinant Human Lipopolysaccharide-responsive and beige-like anchor protein (LRBA), partial | CSB-EP013070HU(C) | Cusabio

Alternative Name(s): Beige-like protein;CDC4-like protein

Gene Names: LRBA

Research Areas: Signal Transduction

Organism: Homo sapiens (Human)

AA Sequence: PQPHRHVLEISRQHEQPGQGIAPDAVNGQRRDSRSTVFRIPEFNWSQMHQRLLTDLLFSIETDIQMWRSHSTKTVMDFVNSSDNVIFVHNTIHLISQVMDNMVMACGGILPLLSAATSATHELENIEPTQGLSIEASVTFLQRLISLVDVLIFASSLGFTEIEAEKSMSSGGILRQCLRLVCAVAVRNCLECQQHSQLKTRGDKALKPMHSLIPLGKSAAKSPVDIVTGGISPV

Source: E.coli

Tag Info: N-terminal 6xHis-tagged

Expression Region: 1267-1500aa

Sequence Info: Partial

MW: 29.8 kDa

Purity: Greater than 90% as determined by SDS-PAGE.

Relevance: May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or mbrane deposition of immune effector molecules.

Reference: Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.Lopez-Herrera G., Tampella G., Pan-Hammarstrom Q., Herholz P., Trujillo-Vargas C.M., Phadwal K., Simon A.K., Moutschen M., Etzioni A., Mory A., Srugo I., Melamed D., Hultenby K., Liu C., Baronio M., Vitali M., Philippet P., Dideberg V. , Aghamohammadi A., Rezaei N., Enright V., Du L., Salzer U., Eibel H., Pfeifer D., Veelken H., Stauss H., Lougaris V., Plebani A., Gertz E.M., Schaffer A.A., Hammarstrom L., Grimbacher B.Am. J. Hum. Genet. 90:986-1001(2012)

Storage: The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20?/-80?. The shelf life of lyophilized form is 12 months at -20?/-80?.

Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.

Function: May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.

Involvement in disease: Immunodeficiency, common variable, 8, with autoimmunity (CVID8)

Subcellular Location: Cell membrane, Single-pass membrane protein, Endoplasmic reticulum, Golgi apparatus, trans-Golgi network, Lysosome

Protein Families:

Tissue Specificity: Ubiquitous.

Paythway:

Form: Liquid or Lyophilized powder

Buffer: If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Reconstitution: We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20?/-80?. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Uniprot ID: P50851

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM