Entity Details

Primary name EML1
Entity type gene
Source Source Link

Details

PrimaryID2009
RefseqGeneNG_052827
SymbolEML1
NameEMAP like 1
Chromosome14
Location14q32.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEMAL1_HUMAN

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0005509 calcium ion binding
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005875 microtubule associated complex
GO:0007052 mitotic spindle organization
GO:0007405 neuroblast proliferation
GO:0007420 brain development
GO:0008017 microtubule binding
GO:0015631 tubulin binding
GO:0048471 perinuclear region of cytoplasm

Diseases

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Disease IDSourceNameDescription
600348 OMIMBand heterotopia (BH)A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry.