ZMIZ1

Chr 10AD

zinc finger MIZ-type containing 1

Also known as: MIZ, NEDDFSA, RAI17, TRAFIP10, ZIMP10

NCBI Gene: 57178 ENSG00000108175 UniProt: Q9ULJ6 OMIM: 607159

This protein acts as a transcriptional coactivator that regulates multiple signaling pathways including androgen receptor, TGF-beta/SMAD, and NOTCH1, and is involved in pyramidal neuron positioning during cerebral cortex development. Mutations cause neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomaliesMIM #618659

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

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

0.25

LOEUF· LoF intol.

LOF

Mechanism· G2P