BCL2L13
Description
The BCL2L13 (BCL2 like 13) is a protein-coding gene located on chromosome 22.
BCL2-like 13 (apoptosis facilitator), also known as BCL2L13 or Bcl-rambo, is a protein encoded by the BCL2L13 gene on chromosome 22. This gene encodes a mitochondrially-localized protein classified under the Bcl-2 protein family. Overexpression of this protein leads to apoptosis, which has implicated it in cancers such as childhood acute lymphoblastic leukemia (ALL) and glioblastoma multiforme (GBM). Alternative splicing of this gene produces variants like Bcl-rambo beta. As a member of the Bcl-2 protein family, Bcl-rambo has four conserved BH domains and a transmembrane (TM) domain. Unlike other members, Bcl-rambo's apoptotic function doesn't rely on the BH domains, but rather on the mitochondrial localization facilitated by the TM domain. It also has conserved B-cell lymphoma 2 homology motifs and an extension at its c-terminal, called the BHNo domain, which has two tandem repeats, RTA and RTB. An alternatively-spliced protein variant, Bcl-rambo beta, consists solely of the BH4 domain, lacking BH domains 1 through 3 due to an in-frame stop codon inserted by an Alu element. Without the TM domain, this variant remains in the cytosol and doesn't localize to the mitochondria. However, it still exhibits proapoptotic activity, mediated by the encoded Alu element, although the exact mechanisms are yet to be understood.
This protein is involved in activating caspase-3 and promoting apoptosis.
BCL2L13 is also known as BCL-RAMBO, Bcl2-L-13, MIL1.
Associated Diseases
- nonpapillary renal cell carcinoma
- Okt4 epitope deficiency
- neutropenia, severe congenital, 2, autosomal dominant
