Gene: EML1

Alternate names for this Gene: BH|ELP79|EMAP|EMAP-1|EMAPL

Gene Summary: Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.2

Description of this Gene: EMAP like 1

Type of Gene: protein-coding

rs886037936 in EML1 gene and BAND HETEROTOPIA PMID 28556411 2017 The genetic landscape of familial congenital hydrocephalus.

PMID 24859200 2014 Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

rs10131519 in EML1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs35426224 in EML1 gene and Major Depressive Disorder PMID 30219690 2019 GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort.

rs35426224 in EML1 gene and Smoking PMID 30219690 2019 GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort.

rs11160546 in EML1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.