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Table 2 A brief description of known MCPH loci/genes so far

From: Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Locus Chromosome Gene Cellular location Proposed Function References
MCPH1 8p23 MCPH1 Microcephalin Nucleus/Chromatin DNA Damage repair, chromosome condensation [39, 52, 58]
MCPH2 19q13.12- q13.2 WDR62 Nucleus, cetrosomal during mitosis Not yet established, expression pattern resembles with ASPM [21, 26, 27, 40]
MCPH3 9q33.2 CDK5RAP2 Centrosome/Midbody Regulation of microtubule function/Centrosome maturation [44, 62, 63]
MCPH4 15q15-q21 CEP152 Centrosome Involved in centriol duplication [41, 46]
MCPH5 1q31.3 ASPM Pericentrosomal/Midbody Orientaion of mitotic spindles during embryonic neurogenesis [22, 67, 71, 79]
MCPH6 13q12.12 CENPJ Centrosome/Midbody Centriole length control/microtubule function [44, 86, 87]
MCPH7 1p33 STIL Pericentrosomal Spindle organization/Cell cycle progression [42, 96100]