LRRC8A blocking peptide

LRRC8A Peptide

Cat. Num. AAA154420

• Gene Names: LRRC8A; AGM5; LRRC8; SWELL1
• Applications: Blocking (BL)
• Synonyms: LRRC8A; LRRC8A Peptide; Leucine rich repeat containing 8 family member A; leucine-rich repeat-containing protein 8A; LRRC8; AGM5; LRRC8A blocking peptide

• Host: Human
• Form/Format: Liquid
• Concentration: 200 ug/mL (varies by lot)
• Sequence Length: 810

• Applicable Applications for LRRC8A blocking peptide: Blocking (BL)
• Buffer: PBS pH 7.2 (10 mM NaH2PO4, 10 mM Na2HPO4, 130 mM NaCl) containing 0.1% bovine serum albumin and 0.02% sodium azide
• Location: 15 amino acid peptide near the amino terminus of human LRRC8A.
• Preparation and Storage: Store at -20 degree C, stable for one year.

References

Sawada A, Takihara Y, Kim JY, et al. A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. J. Clin. Invest. 2003; 112:1707-13.

NCBI and Uniprot Product Information

• NCBI GI #: 62241040
• NCBI GeneID: 56262
• NCBI Accession #: NP_062540
• NCBI GenBank Nucleotide #: NM_019594.3
• UniProt Accession #: Q8IWT6; Q6UXM2; Q8NCI0; Q9P2B1
• Molecular Weight: 94,199 Da
• NCBI Official Full Name: volume-regulated anion channel subunit LRRC8A
• NCBI Official Synonym Full Names: leucine-rich repeat containing 8 family member A
• NCBI Official Symbol: LRRC8A
• NCBI Official Synonym Symbols: AGM5; LRRC8; SWELL1
• NCBI Protein Information: volume-regulated anion channel subunit LRRC8A
• UniProt Protein Name: Volume-regulated anion channel subunit LRRC8A
• Protein Family: Volume-regulated anion channel
• UniProt Gene Name: LRRC8A
• UniProt Synonym Gene Names: KIAA1437; LRRC8; SWELL1
• UniProt Entry Name: LRC8A_HUMAN

NCBI Description

This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

Uniprot Description

LRRC8A: Involved in B-cell development. Required for the pro-B cell to pre-B cell transition. Defects in LRRC8A are the cause of agammaglobulinemia type 5 (AGM5). It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 9q34.11

Cellular Component: cell surface; membrane; plasma membrane

Molecular Function: anion channel activity; protein binding; volume-sensitive anion channel activity

Biological Process: anion transport; cell volume homeostasis; pre-B cell differentiation; response to osmotic stress

Disease: Agammaglobulinemia 5, Autosomal Dominant