PNKD
| Paroxysmal nonkinesigenic dyskinesia | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | PNKD; BRP17; DYT8; FPD1; KIPP1184; MR-1; MR1; PDC; PKND1; TAHCCP2 | ||||||||||||
| External IDs | OMIM: 609023 MGI: 1930773 HomoloGene: 75045 GeneCards: PNKD Gene | ||||||||||||
| EC number | 3.1.2.6 | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 25953 | 56695 | |||||||||||
| Ensembl | ENSG00000127838 | ENSMUSG00000026179 | |||||||||||
| UniProt | Q8N490 | Q69ZP3 | |||||||||||
| RefSeq (mRNA) | NM_001077399 | NM_001039509 | |||||||||||
| RefSeq (protein) | NP_001070867 | NP_001034598 | |||||||||||
| Location (UCSC) | Chr 2: 219.14 – 219.21 Mb | Chr 1: 74.28 – 74.35 Mb | |||||||||||
| PubMed search | |||||||||||||
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).
Function
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 closest 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].
Clinical significance
Point mutations in PNKD exon 1 cause an inherited neurological movement disorder in human, paroxysmal non-kinesigenic dyskinesia.[2]
References
- ↑ Fink JK, Rainer S, Wilkowski J, Jones SM, Kume A, Hedera P, Albin R, Mathay J, Girbach L, Varvil T, Otterud B, Leppert M (Aug 1996). "Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q". Am J Hum Genet 59 (1): 140–5. PMC 1915128. PMID 8659518.
- ↑ 2.0 2.1 "Entrez Gene: PNKD paroxysmal nonkinesiogenic dyskinesia".
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