| Gene Symbol |
PNKD
|
| Entrez Gene |
25953
|
| Alt Symbol |
BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
paroxysmal nonkinesigenic dyskinesia
|
| Other Description |
brain protein 17|myofibrillogenesis regulator 1|probable hydrolase PNKD|trans-activated by hepatitis C virus core protein 2
|
| Swissprots |
Q9NSX4 Q9BU26 Q8N490 Q9ULN6 Q96A48 Q9Y4T1 A8K1F2
|
| Accessions |
AAM73649 CCQ43513 EAW70602 EAW70603 EAW70604 EAW70605 EAW70606 Q8N490 AB033010 BAA86498 AF318057 AAL25716 AF417001 AAL08573 AF418285 AAL08580 AK289867 BAF82556 AK309308 AL080092 CAB45707 AL137675 CAB70870 AM393075 CAL37953 AM393168 CAL38046 AY039043 AAK83449 AY358680 AAQ89043 AY358753 AAQ89113 BC002937 AAH02937 BC007543 BC021118 AAH21118 BC036457 AAH36457 BI764334 BQ028777 BU553179 EU831585 ACE87185 EU831670 ACE86504 NM_001077399 NP_001070867 NM_015488 NP_056303 NM_022572 NP_072094
|
| Function |
Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa- B signaling pathway. {ECO:0000250}.
|
| Subcellular Location |
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. {ECO:0000269|PubMed:15188056, ECO:0000269|PubMed:15262732, ECO:0000269|PubMed:15496428}.
|
![Western Blot: PNKD Overexpression Lysate (Adult Normal) [NBL1-14542] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for PNKD.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/8502_PNKD%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-14542-img0002.jpg)