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MYCN MYCN proto-oncogene, bHLH transcription factor

Also known as: NMYC; ODED; MODED; N-myc; bHLHe37

Summary

This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2017-07-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2017-07-12)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
2p24.3
Sequence:
Chromosome: 2; NC_000002.12 (15940438..15947007)
Total number of exons:
3

Links

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