Non-Bruton type autosomal dominant agammaglobulinemia

Gene Information

Names

HUGO name: LRRC8A

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Subcellular location:

Membrane; multi-pass membrane protein (potential).

Tissue specificity:

Highest expression in the brain, followed by kidney, ovary, lung, liver, heart, and fetal brain and liver. Expressed on T-cells as well as on B-lineage cells.

Similarity:

Contains 17 lrr (leucine-rich) repeats.

Other features

Leucine-rich repeat-containing protein 8a.: 1-810

    N-linked (glcnac...) glycosylation sites: 191,526,554,592,660,696,755

      Other related resourses:

      Expression

      Expression pattern for human

      Tissue Expression (%) Clones
      mouth_lining 20.81 1:1861
      tongue 12.47 12:37267
      umbilical_cord 4.15 1:9321
      brain 3.98 81:787883
      bone 3.85 7:70388
      pancreas 3.56 13:141200
      embryonic_tissue 3.40 4:45612
      connective_tissue 3.22 8:96057
      colon 3.07 8:100892
      muscle 2.87 8:107777

      Animal models

      Mouse