CENPB
Description
The CENPB (centromere protein B) is a protein-coding gene located on chromosome 20.
Centromere protein B (CENPB), also known as the major centromere autoantigen B, is a protein found in the cell nucleus. It is encoded by the CENPB gene and plays a crucial role in centromere formation. CENPB is highly conserved and binds to a specific 17-base pair sequence (CENP-B box) within the centromeric alpha satellite DNA. This DNA-binding protein is believed to be involved in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also recognized by antibodies in patients with anti-centromere syndrome. CENPB has been identified as a potential biomarker for small-cell lung cancer.
CENPB binds to a specific 17 base pair sequence within the alphoid satellite DNA known as the CENP-B box. This binding may be crucial for organizing arrays of centromere satellite DNA into a higher-order structure, ultimately directing the formation of the centromere and the assembly of the kinetochore in mammalian chromosomes.
CENPB is also known as -.
Associated Diseases
- Perrault syndrome
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- 46,XY complete gonadal dysgenesis
- premature ovarian failure 7
- 46,XX testicular disorder of sex development
- spermatogenic failure, X-linked, 2
- double uterus-hemivagina-renal agenesis syndrome
- premature ovarian failure 18
- 46,XX ovotesticular disorder of sex development
- Kallmann syndrome
- spinocerebellar ataxia type 32
- Leydig cell hypoplasia
- partial androgen insensitivity syndrome
- isolated congenital hypogonadotropic hypogonadism
