LIN54

Chr 4

lin-54 DREAM MuvB core complex component

Also known as: CXCDC1, JC8.6, MIP120, TCX1

NCBI Gene: 132660 ENSG00000189308 UniProt: Q6MZP7

LIN54 encodes a component of the DREAM complex that acts as a sequence-specific DNA-binding protein to regulate cell cycle gene expression, binding to over 800 promoters to repress E2F target genes in G0 phase and activate G2/M genes in S phase. Mutations cause autosomal recessive primordial dwarfism with distinctive facial features and intellectual disability. The gene is highly constrained against loss-of-function mutations, indicating intolerance to haploinsufficiency in the general population.

ResearchSummary from RefSeq, UniProt

LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010]

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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