Alternative Name(s):

Beige-like protein;CDC4-like protein

Species: (Organism)

Homo sapiens (Human)

Gene Names:

LRBA

Tag info:

N-terminal 6xHis-tagged

Target Protein AA Sequence:

PQPHRHVLEISRQHEQPGQGIAPDAVNGQRRDSRSTVFRIPEFNWSQMHQRLLTDLLFSIETDIQMWRSHSTKTVMDFVNSSDNVIFVHNTIHLISQVMDNMVMACGGILPLLSAATSATHELENIEPTQGLSIEASVTFLQRLISLVDVLIFASSLGFTEIEAEKSMSSGGILRQCLRLVCAVAVRNCLECQQHSQLKTRGDKALKPMHSLIPLGKSAAKSPVDIVTGGISPV

Expression Region:

1267-1500aa

Subcellular Location:

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

Tissue Specificity:

Ubiquitous.

Protein Length:

Partial

Pathway:

Mol. Weight:

29.8 kDa

Purity:

Greater than 90% as determined by SDS-PAGE.

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.

Research Areas:

Signal Transduction

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)

Relevance:

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

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.

Protein Families:

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)