PANK2

(redirected from PKAN)
Also found in: Acronyms.

PANK2

A gene on chromosome 20p13 that encodes a member of the pantothenate kinase family, which are key enzymes in coenzyme A (CoA) synthesis. PANK2 catalyses the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition; is the only member to be expressed in mitochondria. 

Molecular pathology
PANK2 mutations are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), also known as Hallervorden-Spatz syndrome.
References in periodicals archive ?
'We are very disappointed in the topline results from the FORT Study, particularly because we have seen the devastating impact of PKAN on patients and their families, and a significant unmet need remains with no approved treatment option.
Based on the clinical assessment and the typical MRI findings, we arrived at the diagnosis of PKAN.
Globus pallidus internus stimulation resulted in significant improvement in BFM outcome scores for patients with DYT1 negative or positive dystonia, PKAN, idiophatic dystonia, tardive dystonia, posttraumatic dystonias, and cerebral palsy.
It has been postulated that, in PKAN patients, PPA deficiency leads to decreased CoA levels [5].
The SPA (Special Protocol Assessment) indicates concurrence by the US FDA that the design of the pivotal trial can adequately support a New Drug Application (NDA) seeking US approval of RE-024, the company's novel investigational replacement therapy, for the treatment of PKAN.
We herein present the clinical features, genetic analysis, electrophysiological studies, and neuroimaging of 2 Taiwanese patients with PKAN. We also compare the data on PKAN patients of Asian and Western populations from the literature, focusing on clinically and genetically distinguishing features in classic and atypical cases.
'We are looking forward to the upcoming data read-out from our Phase 3 FORT Study this quarter, which if successful would support NDA and MAA submissions to potentially make fosmetpantotenate the first approved treatment for PKAN,' said Eric Dube, Ph.D., chief executive officer of Retrophin.
Globus pallidus hypointensity with or without central hyperintensity is highly characteristic of PKAN (15) (Pantothenate Kinase-Associated Neuropathy) or Hallervorden-Spatz disease.
Retrophin, a fully-integrated biopharmaceutical company, has received orphan drug designation from the European Commission for RE-024, the company's novel investigational phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration (PKAN), it was reported yesterday.
* Retrophin, Inc.(NASDAQ: RTRX) fell 29.5% to $12.27 in pre-market trading after the company disclosed that its Phase 3 FORT study of fosmetpantotnate in patients with PKAN did not meet its primary or secondary endpoints.
(1) The sign is considered as the distinctive radiologic feature of Neurodegeneration with Brain Iron Accumulation (NBIA) type 1, also known as Pantothenate Kinase Associated Neurodegeneration (PKAN).
M2 EQUITYBITES-May 6, 2015-Retrophin passes US FDA's orphan drug designation for RE-024 for PKAN