QuickView for Tahccp2 (gene)
- Gene Symbol:
- PNKD
Homo sapiens - Full name:
- paroxysmal nonkinesigenic dyskinesia
- Synonyms:
- BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, PNKD1, TAHCCP2, probable hydrolase PNKD, brain protein 17, myofibrillogenesis regulator 1, trans-activated by hepatitis C virus core protein 2
- Genomic Location:
- Chr 2: 218843359-218919760
- Description:
-
This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants.
- Orthologs:
- Mus musculus , Macaca mulatta , Rattus norvegicus , Danio rerio , Canis lupus familiaris , Bos taurus
- External Links:
- Entrez Gene
- Transcription Factor
Binding Sites:
- Cytogenetic Map:
-
2q35
GO Molecular Function
thiolester hydrolase activity | cation binding | hydrolase activity | catalytic activity | hydrolase activity, acting on ester bonds | ion binding | hydroxyacylglutathione hydrolase activity | protein binding | metal ion binding
GO Biological Process
regulation of cellular localization | regulation of localization | negative regulation of cellular process | cellular process | organic substance catabolic process | negative regulation of signaling | negative regulation of secretion | negative regulation of neurotransmitter transport | regulation of cellular process | regulation of metabolic process | catabolic process | methylglyoxal metabolic process | monocarboxylic acid metabolic process | regulation of dopamine metabolic process | negative regulation of transport | modulation of chemical synaptic transmission | regulation of catecholamine metabolic process | regulation of neurotransmitter levels | organic hydroxy compound metabolic process | negative regulation of secretion by cell | neuromuscular process controlling posture | nervous system process | ketone catabolic process | regulation of nitrogen compound metabolic process | small molecule metabolic process | regulation of synaptic transmission, dopaminergic | methylglyoxal catabolic process to lactate | cellular ketone metabolic process | negative regulation of neurotransmitter secretion | regulation of cellular metabolic process | carboxylic acid metabolic process | cellular aldehyde metabolic process | methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione | metabolic process | regulation of secretion | organic substance metabolic process | lactate metabolic process | regulation of cell communication | neuromuscular process | organic acid metabolic process | aldehyde catabolic process | regulation of transport | negative regulation of synaptic transmission | cellular metabolic process | regulation of signaling | regulation of neurotransmitter secretion | multicellular organismal process
GO Cellular Component
intracellular membrane-bounded organelle | cell | cytoplasm | intracellular organelle | mitochondrion | membrane-bounded organelle | nucleus | organelle | intracellular | membrane
