Atlas / Gene profiles

The 33 MCPH Genes, Gene by Gene

This page turns Mario's gene list into a biological map. Each profile asks what the protein does, where the mechanism sits in the cell, how that mechanism can shrink the developing brain, how the old bundle sees the symbol, and which literature/database trail should be followed next.

33genes in Mario's current MCPH list

2mandatory alias bridges: KNL1/CASC5 and TRAPPC14/C7orf43

8mechanistic families represented

1goal: reproducible old protocol, modern interpretation

Reading rule Do not memorize these as isolated names.

Read them as modules: centrosome, kinetochore, cytokinesis, nuclear envelope, chromatin, trafficking/autophagy, RNA/ribosome, and vascular-metabolic support.

Evidence rule Clinical confidence still needs grading.

The next pass should attach PanelApp color, Gene2Phenotype confidence, OMIM phenotype, ClinGen validity, and Open Targets associations to each row.

Mechanistic map

Eight ways to make a developing cortex too small.

Centrosome / centrioleASPM, CDK5RAP2, CENPJ, STIL, CEP135, CEP152, SASS6, WDR62

Kinetochore / checkpointKNL1/CASC5, BUB1, CENPE, NUP37

Cytokinesis / abscissionCIT, KIF14, PDCD6IP

Chromosome architectureNCAPD2, NCAPD3, NCAPH, MCPH1

Nuclear envelope / laminaANKLE2, LMNB1, LMNB2

Chromatin / transcriptionPHC1, ZNF335, AKNA

Trafficking / autophagy / RNACOPB2, TRAPPC14, WDFY3, RRP7A, SNRPE

Metabolic barrier supportMFSD2A

Profiles

The 33 MCPH Genes, Gene by Gene

Eight ways to make a developing cortex too small.

Each card is a thesis-reading unit.