SERPINA12 Chromosome 14

Serpin family A member 12
1 variant 1 Health Risk

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What This Gene Does
Enables molecular function inhibitor activity. Predicted to act upstream of or within negative regulation of gluconeogenesis; positive regulation of signal transduction; and regulation of lipid metabolic process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
14q32.13
Ensembl
ENSG00000165953
Associated Conditions (2)
Hereditary palmoplantar keratoderma
Gamborg-Nielsen type
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1445117727 Health Risk Pathogenic Hereditary palmoplantar keratoderma, Gamborg-Nielsen type, Hereditary palmoplantar keratoderma
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