MYC Chromosome 8

MYC proto-oncogene, bHLH transcription factor
4 variants 4 Health Risk

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What This Gene Does
This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
8q24.21
Ensembl
ENSG00000136997
Associated Conditions (2)
Burkitt lymphoma
Acute myeloid leukemia
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS121918683 Health Risk Pathogenic Burkitt lymphoma, Burkitt lymphoma
RS121918684 Health Risk Pathogenic Burkitt lymphoma, Burkitt lymphoma
RS28933407 Health Risk Pathogenic Burkitt lymphoma, Burkitt lymphoma
RS750664148 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
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