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XB-GENEPAGE-1010281
???displayGene.symbol???:
emc1
???displayGene.name???:
ER membrane protein complex subunit 1
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(
Nomenclature history )
???displayGene.geneFunction???
Uncharacterized conserved protein
AI Protein Function
:
The emc1 gene encodes a protein involved in neural development, functioning as a transcription factor. It is expressed in the developing eye, brain, and spinal cord. The protein localizes to the nucleu...[+]
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Diseases:
Disease Ontology:
cerebellar atrophy, visual impairment, and psychomotor retardation
MIM:
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR
External Links:
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