EML1
Homo sapiens
Gene Name: echinoderm microtubule associated protein like 1
Aliases: ELP79, EMAP, EMAPL, FLJ45033, HuEMAP
Chromosome No: 14
Chromosome Band: 14q32.2
Genetic Category: Rare Single Gene variant
Aliases: ELP79, EMAP, EMAPL, FLJ45033, HuEMAP
Chromosome No: 14
Chromosome Band: 14q32.2
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 10
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the EML1 gene have been identified with ASD (Schaaf et al., 2011).
Molecular Function
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. Two transcript variants encoding different isoforms have been found for this gene.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
