MYT1

Chr 20

myelin transcription factor 1

Also known as: C20orf36, MTF1, MYTI, NZF2, PLPB1, ZC2H2C1, ZC2HC4A

NCBI Gene: 4661 ENSG00000196132 UniProt: Q01538

The MYT1 protein is a zinc finger DNA-binding transcription factor that binds to promoter regions of central nervous system proteolipid protein genes and regulates oligodendrocyte development and myelin gene transcription. Mutations cause autosomal dominant intellectual disability with variable features that may include seizures, autism spectrum disorder, and developmental delays, typically with onset in early childhood. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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