ATG9B Chromosome 7
Autophagy related 9B
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What This Gene Does
This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Gene Info
Gene Group
Autophagy related
Locus Type
gene with protein product
Location
7q36.1
Ensembl
ENSG00000181652
Associated Conditions (1)
Premature ovarian failure
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS996929151 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |