Entity Details

Primary name CEP85L
Entity type gene
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Details

PrimaryID387119
RefseqGeneNG_021248
SymbolCEP85L
Namecentrosomal protein 85 like
Chromosome6
Location6q22.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2003-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCE85L_HUMAN

GO terms

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GOName
GO:0000242 pericentriolar material
GO:0001764 neuron migration
GO:0005737 cytoplasm
GO:0005813 centrosome

Diseases

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Disease IDSourceNameDescription
618873 OMIMLissencephaly 10 (LIS10)A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS10 is an autosomal dominant form clinically characterized by variably delayed development, mildly to moderately impaired intellectual development, language delay, and seizures. Some patients have normal early development and borderline to mild cognitive impairment. The disease is caused by variants affecting the gene represented in this entry.