Laforin - CISMeF

Preferred Label : Laforin;

NCIt synonyms : Glucan Phosphatase; EPM2A; LAFPTPase; EC 3.1.3.48; Lafora PTPase; EC 3.1.3.16; Glycogen Phosphatase;

NCIt definition : Laforin (331 aa, 37 kDa) is encoded by the human EPM2A gene. This protein is involved in glycogen and protein phosphatase activity.;

NCIt note : Laforin is expressed as at least 8 isoforms (1, 2, 4, 5, 6, 7, 8 and 9) resulting from alternative splicing or promoter usage. The sequence of isoform 9 differs significantly from the others and has its own UniProt entry (B3EWF7).;

Détails

Origin ID

C216117;

OMIM relation
- Epm2a glucan phosphatase, laforin [OMIM gene]
gene_encodes_gene_product
- EPM2A Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Esterase Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- Phosphatase Family Gene [NCIt concept]
- Protein Phosphatase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoplasm [NCIt concept]
- Membrane of the Endoplasmic Reticulum [NCIt concept]
- Nucleus [NCIt concept]
- Plasma Membrane [NCIt concept]
gene_product_has_biochemical_function
- Hydrolase [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Autophagy [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- Cellular Stress Response [NCIt concept]
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Unfolded Protein Response [NCIt concept]

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