LCP1 Chromosome 13
Lymphocyte cytosolic protein 1
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What This Gene Does
Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"EF-hand domain containing|Plastin family"
Locus Type
gene with protein product
Location
13q14.13
Ensembl
ENSG00000136167
Associated Conditions (1)
Hereditary breast ovarian cancer syndrome
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1376923782 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |