Denigma: Factor

BUB1B

Symbol: BUB1B
Name: budding uninhibited by benzimidazoles 1 homolog beta (yeast)
Alias: BUBR1; MAD3L; Bub1A; SSK1
Entrez gene ID: 701
Ensembl gene ID: ENSG00000156970
Species: Human (Taxid: 9606)

Function:
Mitotic checkpoint protein that controls chromosome segregation and maintains genetic stability [9889005].

Observation:

Mutations in BUB1B are associated with mosaic variegated aneuplody, a rare human syndrome characterized by aneuplodization, tumour predisposition and several progeroid traits, including short lifespan, growth and mental retardation, cataracts and facial dysmorphisms [16411201; 15475955; 20651707].

Assays: Organismal Lifespan

Classification:

Aging Associated

Cancer-Related

Tumor-Suppressor

References:

15475955: Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

16411201: Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome.

20651707: Progeria syndromes and ageing: what is the connection?

Aging Relevance Analysis/Source:

GenAge