protein 1,158 words KG: CENPJPROTEIN 2026-03-30
kind:proteinsection:proteinsstate:published
Contents

CENPJ Protein

🔬 Protein Info
Gene SymbolCENPJ
AliasesCentromere Protein J
Chromosome13q12.2.
FunctionCENPJ (Centromere Protein J), also known as CPAP (Centromere Protein N), is a crucial centrosomal protein essential for centriole duplication, centrosome maturation, and proper mitotic spindle form...
Molecular Weight136 kDa
GeneCardsCENPJ
Human Protein AtlasCENPJ
N-terminal domainContains the ST (S/T) motif that mediates protein-protein interactions with centriolar components
Central coiled-coil regionsFacilitate protein oligomerization and complex formation with other centriolar proteins including SAS-4 (in Drosophila) and STIL
C-terminal domainsContain regulatory motifs that control protein stability and function
Severe microcephalyHead circumference >3 standard deviations below the mean
Reduced cortical volumeMarkedly reduced brain size, particularly affecting the cerebral cortex
Developmental delayVariable intellectual disability depending on mutation severity
SeizuresSome patients present with epileptic episodes
Normal facial featuresUnlike other microcephaly syndromes, facial dysmorphism is typically mild
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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