BDNF Chromosome 11
Brain derived neurotrophic factor
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What This Gene Does
This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer's, Parkinson's, and Huntington's disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
Neurotrophins
Locus Type
gene with protein product
Location
11p14.1
Ensembl
ENSG00000176697
Associated Conditions (4)
Congenital central hypoventilation
Obesity
BDNF-related disorder
Inborn genetic diseases
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS8192466 | Health Risk | Conflicting classifications of pathogenicity | Congenital central hypoventilation, Obesity, BDNF-related disorder |
| RS1554931219 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1852795747 | Health Risk | Likely pathogenic | Obesity, Obesity |