LAT2 Antibody – Rabbit Polyclonal

Function: Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2. Ref.3 Ref.4 Ref.11

Subunit structure: When phosphorylated, interacts with GRB2. May also interact with SOS1, GAB1 and CBL. Ref.3 Ref.4 Ref.12

Subcellular location: Cell membrane; Single-pass type III membrane protein. Note: Present in lipid rafts. Ref.3 Ref.4

Tissue specificity: Highly expressed in spleen, peripheral blood lymphocytes, and germinal centers of lymph nodes. Also expressed in placenta, lung, pancreas and small intestine. Present in B-cells, NK cells and monocytes. Absent from T-cells (at protein level). Ref.1 Ref.3 Ref.4 Ref.13

Post-translational modification: Phosphorylated on tyrosines following cross-linking of BCR in B-cells, FCGR1 in myeloid cells, or FCER1 in mast cells; which induces the recruitment of GRB2. Ref.3 Ref.4 Ref.12May be polyubiquitinated.

Involvement in disease: LAT2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of LAT2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Ref.1 Ref.2 Ref.5

Sequence caution: The sequence AAF29018.1 differs from that shown. Reason: Frameshift at positions 82, 86, 130 and 221.