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microcephalin (MCPH1)

Function: 1) role in chromosome condensation & DNA damage induced cellular responses 2) role in neurogenesis & regulation of cerebral cortex size Structure: - contains 3 BRCT domains Compartment: centrosome Expression: - expressed in fetal brain, liver, kidney Pathology: - defects in MCPH1 are the cause of primary microcephaly 1 - defects in MCPH1 are a cause of PCC syndrome

General

other protein

Properties

SIZE: MW = 93 kD entity length = 835 aa MOTIF: BRCA1 C-terminal (BRCT) motif SITE: 1-93 BRCA1 C-terminal (BRCT) motif SITE: 640-730 BRCA1 C-terminal (BRCT) motif SITE: 751-833

Database Correlations

OMIM correlations MORBIDMAP 607117 UniProt Q8NEM0 Pfam PF00533

References

  1. UniProt :accession Q8NEM0
  2. Protein Spotlight A grey matter - Issue 64 of November 2005 http://www.expasy.org/spotlight/back_issues/sptlt064.shtml