Gene: BCL2L1

Alternate names for this Gene: BCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52

Gene Summary: The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.21

Description of this Gene: BCL2 like 1

Type of Gene: protein-coding

Gene: BCL2L1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs6088962 in BCL2L1;BCL2L1-AS1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs80054178 in BCL2L1;BCL2L1-AS1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.