Gene: TUBB

Alternate names for this Gene: CDCBM6|CSCSC1|M40|OK/SW-cl.56|TUBB1|TUBB5

Gene Summary: This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: tubulin beta class I

Type of Gene: protein-coding

Gene: MDC1

Alternate names for this Gene: NFBD1

Gene Summary: The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: mediator of DNA damage checkpoint 1

Type of Gene: protein-coding