LCP1 Chromosome 13

Lymphocyte cytosolic protein 1
1 variant 1 Health Risk

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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
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1376923782 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
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