Gene: PLS1

Alternate names for this Gene: DFNA76

Gene Summary: 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. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.

Gene is located in Chromosome: 3

Location in Chromosome : 3q23

Description of this Gene: plastin 1

Type of Gene: protein-coding

Gene: LOC105374136

Alternate names for this Gene:

Gene Summary:

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rs11715610 in PLS1;LOC105374136 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs7615316 in PLS1;LOC105374136 gene and Finding of Mean Corpuscular Hemoglobin PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

rs7615316 in PLS1;LOC105374136 gene and Mean Corpuscular Volume (result) PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

rs1357529 in PLS1;LOC105374136 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.