TLN1 Chromosome 9
Talin 1
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What This Gene Does
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]
Gene Info
Gene Group
"FERM domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000137076
Associated Conditions (1)
Capillary leak syndrome
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2131878320 | Health Risk | Likely pathogenic | Capillary leak syndrome, Capillary leak syndrome |