Centrosomal Protein, 152-kD

Alternative Names

CEP152
KIAA0912

Length

149,371 bases

No. of Exons

No. of isoforms

Protein Name

Centrosomal protein of 152 kDa

Molecular Mass

195626 Da

Amino Acid Count

1710

Genomic Location

chr15:48,662,533-48,811,903

Gene Map Locus

15q21.1

Description

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). [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001194998.1:c.95A>C	Saudi Arabia	NC_000015.10:g.48798044T>G		Pathogenic	Microcephaly 9, Primary, Autosomal Recessive	NG_027518.1:g.18103A>C; NM_001194998.1:c.95A>C; NP_001181927.1:p.Gln32Pro

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=cep152

Contributors

Sayeeda Hana: 21.11.2021

Edit History

Sayeeda Hana: 21.11.2021

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