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MPAPA

Chr 2AD

MYCN proto-oncogene, bHLH transcription factor

Also known as: FGLDS1, MODED, MPAPA, MYCNsORF, MYCNsPEP, N-myc, NMYC, ODED

The protein is a nuclear transcription factor containing a basic helix-loop-helix domain that must dimerize with other bHLH proteins to bind DNA and regulate gene expression. Mutations cause megalencephaly-polydactyly syndrome, which involves abnormal brain overgrowth and extra digits, following an autosomal dominant inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM
AD1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MPAPA?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MPAPA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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