CUX1

Chr 7

cut like homeobox 1

Also known as: CASP, CDP, CDP/Cut, CDP1, COY1, CUTL1, CUX, Clox

NCBI Gene: 1523 ENSG00000257923 UniProt: P39880

CUX1 encodes a transcription factor that controls neuronal differentiation, dendrite development, and synaptogenesis in the brain, particularly in cortical layers II-III. Mutations cause autosomal dominant neurodevelopmental disorder with developmental delay and variable motor or speech delays. The gene is highly constrained against loss-of-function variants, indicating that proper CUX1 function is critical for normal development.

ResearchSummary from OMIM, UniProt

The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with developmental delay and with or without motor or speech delay

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

—

P/LP missense

0.16

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429