PASK Chromosome 2
PAS domain containing serine/threonine kinase
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What This Gene Does
This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"PAS domain containing|PASK family kinases"
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000115687
Associated Conditions (1)
PASK-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139743003 | Health Risk | Conflicting classifications of pathogenicity | PASK-related disorder, PASK-related disorder |