PNKD (PNKD metallo-beta-lactamase domain containing)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 25953 |
| Gene name | PNKD metallo-beta-lactamase domain containing |
| Gene symbol | PNKD |
| Synonyms (NCBI Gene) |
BRP17DYT8FKSG19FPD1KIPP1184MR-1MR-1SMR1PDCPKND1PNKD1R1TAHCCP2
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| Chromosome | 2 |
| Chromosome location | 2q35 |
| 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. [provi |
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miRNA
miRNA information provided by mirtarbase database.
569
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q8N490 | |||||||||||||||
| Protein name | Probable thioesterase PNKD (EC 3.1.2.-) (Myofibrillogenesis regulator 1) (MR-1) (Paroxysmal nonkinesiogenic dyskinesia protein) (Trans-activated by hepatitis C virus core protein 2) | |||||||||||||||
| Protein function | Probable thioesterase that may play a role in cellular detoxification processes; it likely acts on a yet-unknown alpha-hydroxythioester substrate (Probable). In vitro, it is able to catalyze the hydrolysis of S-D-lactoyl-glutathione to form glut | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. {ECO:0000269|PubMed:15188056, ECO:0000269|PubMed:15262732, ECO:0000269|PubMe | |||||||||||||||
| Sequence |
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| Sequence length | 385 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
606
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