LCP2 Chromosome 5
Lymphocyte cytosolic protein 2
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What This Gene Does
This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
5q35.1
Ensembl
ENSG00000043462
Associated Conditions (1)
Immunodeficiency 81
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2113164095 | Health Risk | Pathogenic | Immunodeficiency 81, Immunodeficiency 81 |