QuickView for MCPH1;jsessionid=65C5F041BE32190B049C6E6A2859156F (gene)

Gene Symbol:

MCPH1 Homo sapiens

Full name:

microcephalin 1

Synonyms:

BRIT1, MCT, microcephalin, BRCT-repeat inhibitor of TERT expression 1, truncated microcephalin

Genomic Location:

Chr 8: 6251529-6493434

Description:

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced t...

View Full Description

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TCF1P_Q6

Cytogenetic Map:

8p23.1

search → result