| Paroxysmal nonkinesigenic dyskinesia | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | PNKD; BRP17; DKFZp564N1362; DYT8; FPD1; KIAA1184; KIPP1184; MGC31943; MR-1; MR1; PDC; PKND1; TAHCCP2 | ||||||||||
| External IDs | OMIM: 609023 MGI: 1930773 HomoloGene: 75045 GeneCards: PNKD Gene | ||||||||||
| EC number | 3.-.-.- | ||||||||||
|
|||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 25953 | 56695 | |||||||||
| Ensembl | ENSG00000127838 | ENSMUSG00000026179 | |||||||||
| UniProt | Q8N490 | Q69ZP3 | |||||||||
| RefSeq (mRNA) | NM_001077399.2 | NM_001039509 | |||||||||
| RefSeq (protein) | NP_001070867.1 | NP_001034598 | |||||||||
| Location (UCSC) | Chr 2: 219.14 – 219.21 Mb |
Chr 1: 74.33 – 74.4 Mb |
|||||||||
| PubMed search | [1] | [2] | |||||||||
Probable hydrolase PNKD also known as paroxysmal nonkinesiogenic dyskinesia (PNKD) is a protein that in humans is encoded by the PNKD gene.[1][2] Alternative splicing results in the transcription of three isoforms. The mouse ortholog is called brain protein 17 (Brp17).
The function of PNKD proteins are unknown but the long and medium isoforms of PNKD contain a conserved β-lactmase domain which suggest it may function as an enzyme. The clostest mammalian homolog to PNKD is HAGH, an enzyme involves in a two-step reaction to hydrolyze SLG and produce D-lactic acid and reduced GSH. However, the hydrolytic activity of PNKD is minimal[3].
Point mutations in PNKD exon 1 cause an inherited neurological movement disorder in human, paroxysmal non-kinesigenic dyskinesia.[2]
3. Shen Y, Lee HY, Rawson J, Ojha S, Babbitt P, Fu YH, Ptácek LJ. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.Hum Mol Genet. 2011 Jun 15;20(12):2322-32. PMC3098736, PMID 21487022