Recombinant Human LRRC8A protein (ab163372)

Our Abpromise guarantee covers the use of ab163372 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

Alternative names
- AGM5
- FLJ10337
- FLJ41617
- KIAA1437
- Leucine rich repeat containing 8 family member A
- Leucine rich repeat containing protein 8A
- Leucine-rich repeat-containing protein 8A
- LRC8A_HUMAN
- LRRC8
- Lrrc8a
see all
Function

Involved in B-cell development. Required for the pro-B cell to pre-B cell transition.
Tissue specificity

Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells.
Involvement in disease

Defects in LRRC8A are the cause of agammaglobulinemia type 5 (AGM5) [MIM:613506]. 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. Note=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.
Sequence similarities

Contains 17 LRR (leucine-rich) repeats.
Cellular localization

Membrane.
Target information above from: UniProt accession Q8IWT6 The UniProt Consortium
The Universal Protein Resource (UniProt) in 2010
Nucleic Acids Res. 38:D142-D148 (2010) .

Information by UniProt

SDS-PAGE - Recombinant Human LRRC8A protein (ab163372)

ab163372 on a 12.5% SDS-PAGE stained with Coomassie Blue.

ab163372 has not yet been referenced specifically in any publications.

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