INSM1

Chr 20

INSM transcriptional repressor 1

Also known as: IA-1, IA1

NCBI Gene: 3642 ENSG00000173404 UniProt: Q01101 OMIM: 600010

INSM1 encodes a zinc finger transcriptional repressor that regulates neurogenesis and neuroendocrine cell differentiation during embryonic and fetal development, promoting neuronal progenitor cell generation and differentiation of endocrine cells in the pituitary, pancreas, intestine, and sympathoadrenal system. Mutations cause neurodevelopmental disorders with intellectual disability and neuroendocrine dysfunction, following an autosomal dominant inheritance pattern. The gene shows moderate constraint against loss-of-function variants, consistent with its essential role in early nervous system and endocrine development.

OMIM ResearchSummary from RefSeq, UniProt

Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

118

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.81

LOEUF

LOF

Mechanism· predicted