Family

Microcephalin, mammal (IPR029504)

Short name: Microcephalin_mammal

Family relationships

Description

Microcephalin is implicated in chromosome condensation and DNA damage induced cellular responses [PMID: 15199523, PMID: 15220350]. It may play a role in neurogenesis and regulation of the size of the cerebral cortex in animals. It is a protein, which if expressed homozygously, causes the organism to have the condition microcephaly - a drastically reduced brain mass and volume [PMID: 12046007]. Microcephalin is predicted to contain three BRCA1 C-terminal domains, the first of which is the probable microcephaly mutation site.

GO terms

Biological Process

GO:0021987 cerebral cortex development

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam