MCPH1

Chr 8p23.1

microcephalin 1

Aliases:: FLJ12847, BRIT1
MANE:: ENST00000344683.10

OMIM: 607117 ↗NCBI: 79648 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MCPH1 · Q8NEM0

v62025-08-01

Predicted Aligned Error matrix for MCPH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.3/ 100

Low

835 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)10%
Low(50–70)9%
Very low(< 50)53%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

microcephaly 1, primary, autosomal recessive
0.77
autosomal recessive primary microcephaly
0.69
lymphatic malformation 10
0.44
neurodegenerative disease
0.41
Primary microcephaly
0.37
microcephaly with intellectual disability
0.37
self-injurious ideation
0.31
alcohol drinking
0.31
ovarian dysfunction
0.31
myopathy
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Microcephalin

Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex