PNKD
Summary: 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. [provided by RefSeq, Mar 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| PNKD, MBL domain containing | MIM:609023 | Ensembl:ENSG00000127838 | HGNC:HGNC:9153 | PA33476 | 2q35 |
GO terms in PNKD
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005634 | nucleus |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0016020 | membrane |
| BP | IEA | GO:0019243 | methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione |
| BP | IEA | GO:0032225 | regulation of synaptic transmission, dopaminergic |
| BP | IEA | GO:0042053 | regulation of dopamine metabolic process |
| BP | IMP | GO:0046929 | negative regulation of neurotransmitter secretion |
| BP | IEA | GO:0050884 | neuromuscular process controlling posture |
| MF | IEA | GO:0004416 | hydroxyacylglutathione hydrolase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: PNKD
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PNKD
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PNKD
CLASSFICATION
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