BCL2
Homo sapiens
Gene Name: B-cell CLL/lymphoma 2
Aliases: Bcl-2; BCL2
Chromosome No: 18
Chromosome Band: 18q21.33
Genetic Category: Functional
Aliases: Bcl-2; BCL2
Chromosome No: 18
Chromosome Band: 18q21.33
Genetic Category: Functional
Summary Statistics:
ASD Reports: 10
Recent Reports: 4
Annotated variants: 0
Associated CNVs: 11
Evidence score: null
ASD Reports: 10
Recent Reports: 4
Annotated variants: 0
Associated CNVs: 11
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Studies have shown that the expression of Bcl-2 is significantly decreased in the brain of autistic subjects.
Molecular Function
An integral outer mitochondrial membrane protein that blocks the apoptotic cell death
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidat...
ASD
Highly Cited
Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria.
Highly Cited
Prevention of apoptosis by Bcl-2: release of cytochrome c from mitochondria blocked.
Highly Cited
Bcl-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair.
Highly Cited
Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death.
Highly Cited
Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death.
Recent Recommendation
ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2.
Recent Recommendation
Cathepsin D and apoptosis related proteins are elevated in the brain of autistic subjects.
ASD
Recent Recommendation
Overexpression of BCL2 enhances survival of human embryonic stem cells during stress and obviates the requirement for serum factors.
Recent Recommendation
BDNF-Akt-Bcl2 antiapoptotic signaling pathway is compromised in the brain of autistic subjects.
ASD
