Gene: CEP152

Alternate names for this Gene: MCPH4|MCPH9|SCKL5

Gene Summary: This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.1

Description of this Gene: centrosomal protein 152

Type of Gene: protein-coding

rs10851469 in CEP152 gene and Aortic Aneurysm, Thoracic PMID 21909107 2011 Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

rs182018947 in CEP152 gene and SECKEL SYNDROME 5 PMID 21131973 2011 CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

rs16961610 in CEP152 gene and Skin Pigmentation PMID 17999355 2007 A genomewide association study of skin pigmentation in a South Asian population.