LIME1

Chr 20

Lck interacting transmembrane adaptor 1

Also known as: LIME, dJ583P15.4

NCBI Gene: 54923 ENSG00000203896 UniProt: Q9H400 OMIM: 609809

The protein is a transmembrane adaptor that couples T-cell and B-cell antigen receptor activation to downstream signaling events including calcium mobilization and MAPK activation through recruitment of signaling molecules like PLCG2 and GRB2. Mutations cause autosomal recessive combined immunodeficiency affecting both T-cell and B-cell function. The gene shows low constraint to loss-of-function variation, consistent with a recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a transmembrane adaptor protein that links the T and B-cell receptor stimulation to downstream signaling pathways via its association with the Src family kinases Lck and Lyn, respectively. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.65

LOEUF

Multiple*

Mechanism· predicted