MCPH1

Chr 8

microcephalin 1

Also known as: BRIT1, MCT

NCBI Gene: 79648 ENSG00000147316 UniProt: Q8NEM0

The protein functions as a DNA damage response protein that maintains inhibitory phosphorylation of cyclin-dependent kinase 1 during G2/M checkpoint arrest. Mutations cause primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome, inherited in an autosomal recessive pattern. Loss of function leads to defective cell cycle checkpoint control, resulting in abnormal chromosome condensation and impaired brain development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly 1, primary, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)

microcephaly with intellectual disability · ARDefinitivesufficient evidence for diagnostic panels3 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.44

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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