NAB1

Chr 2

NGFI-A binding protein 1

NCBI Gene: 4664 ENSG00000138386 UniProt: Q13506 OMIM: 600800

NAB1 encodes a transcriptional repressor that inhibits the zinc finger transcription factors EGR1 and EGR2, which are important for nervous system development. Mutations cause autosomal dominant or recessive neurodevelopmental disorders with intellectual disability, developmental delay, and various neurological features. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.59), consistent with its role in essential developmental processes.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within endochondral ossification; nervous system development; and regulation of epidermis development. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.59

Clinical Summary— NAB1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.

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