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PDMCS

Chr 14AD

MYC associated transcriptional regulator X

Also known as: MEN5, PDMCS, bHLHd4

NCBI Gene: 4149 OMIM: 620712

This gene encodes a basic helix-loop-helix leucine zipper transcription factor that forms homodimers and heterodimers with other family members including Mad, Mxi1 and Myc to regulate gene expression by competing for E box DNA binding sites. Mutations cause polydactyly-macrocephaly syndrome, which involves limb malformations and enlarged head circumference. The condition follows autosomal dominant inheritance.

OMIM ResearchSummary from RefSeq, OMIM

The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

OMIM ResearchGenerating clinical summary…