PNKD Antibody – Rabbit Polyclonal

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

By similarity.

Subunit structure: Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3. Ref.1

Subcellular location: Isoform 1: Membrane; Peripheral membrane protein. Isoform 2: Cytoplasm. Nucleus. Isoform 3: Mitochondrion.

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. Ref.1 Ref.15 Ref.16

Induction: By Hepatitis C virus core protein. Ref.2

Post-translational modification: Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR.

Involvement in disease: Dystonia 8 (DYT8) [MIM:118800]: A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.15 Ref.17 Ref.18 Ref.19

Sequence similarities: Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.