Gene Symbol | CEP152 |
Entrez Gene ID | 22995 |
Full Name | centrosomal protein 152 |
Synonyms | MCPH4,MCPH9,SCKL5 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Aug 2010]. |
Disorder MIM: | |
Disorder Html: | Microcephaly 9, primary, autosomal recessive, 614852 (3); Seckel syndrome 5, 613823 (3) |