Recombinant Human Probable hydrolase PNKD (PNKD)

Uniprot Id

Q8N490

Target Species

Human

Target Name

PNKD

Target Full Name

Probable hydrolase PNKD

Target Function

Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.

Target Involvement

Dystonia 8 (DYT8)

Target Subcellular Location

[Isoform 1]: Membrane; Peripheral membrane protein.; [Isoform 2]: Cytoplasm. Nucleus.; [Isoform 3]: Mitochondrion.

Target Protein Families

Metallo-beta-lactamase superfamily, Glyoxalase II family

Target 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. Variant Val-7 and Val-9 are detected in the brain only.

Target Synonyms

2210013N15Rik; 2810403H05Rik; AI854243; BRAIN PROTEIN 17; BRP17; DYT8; FKSG19; FPD1; KIAA1184; KIPP1184; MNCb-5687; MR-1; MR1; Myofibrillogenesis regulator 1; Paroxysmal nonkinesiogenic dyskinesia protein; PDC; PKND1; Pnkd; PNKD_HUMAN; Probable hydrolase PNKD; TAHCCP2; Trans-activated by hepatitis C virus core protein 2

Target Background

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.