TLN1

Chr 9

talin 1

Also known as: ILWEQ, TLN, talin-1

NCBI Gene: 7094 ENSG00000137076 UniProt: Q9Y490

Talin-1 is a high molecular weight cytoskeletal protein that connects major cytoskeletal structures to the plasma membrane and organizes cortical microtubule stabilizing complexes at focal adhesions. Mutations cause autosomal recessive limb-girdle muscular dystrophy type 2R, characterized by progressive proximal muscle weakness typically beginning in childhood or adolescence. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. [provided by RefSeq, Feb 2009]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.13

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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