RecName: Full=Pantothenate kinase 2, mitochondrial; Short=hPanK2; AltN - Protein

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Articles about the PANK2 gene

The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report. [Medicine (Baltimore). 2023]
The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report.
Tran VK, Vu CD, Tran HA, Lien NTK, Tung NV, Lan NN, Tran HT, Hoang NH. Medicine (Baltimore). 2023 Oct 27; 102(43):e34853.
Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India. [Parkinsonism Relat Disord. 2023]
Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India.
Sriram N, Holla VV, Kumari R, Kamble N, Saini J, Mahale R, Netravathi M, Padmanabha H, Gowda VK, Battu R, et al. Parkinsonism Relat Disord. 2023 Jun; 111:105409. Epub 2023 Apr 23.
Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels. [Orphanet J Rare Dis. 2023]
Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
Talaverón-Rey M, Álvarez-Córdoba M, Villalón-García I, Povea-Cabello S, Suárez-Rivero JM, Gómez-Fernández D, Romero-González A, Suárez-Carrillo A, Munuera-Cabeza M, Cilleros-Holgado P, et al. Orphanet J Rare Dis. 2023 Apr 12; 18(1):80. Epub 2023 Apr 12.

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Reference sequence information

RefSeq genomic sequence
See the genomic reference sequence for the PANK2 gene (NG_008131.3).
RefSeq protein isoforms
See 7 reference sequence protein isoforms for the PANK2 gene.

More about the PANK2 gene

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondri...
Also Known As: C20orf48, HARP, HSS, NB...

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Q9BZ23 [Domain Mapping of Disease Mut...]
Q9BZ23
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reagents [ExactAntigen/Labome]
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Homo sapiens signal transducer and activator of transcription 1 (STAT1), transcript variant 2, mRNA
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RecName: Full=Pantothenate kinase 2, mitochondrial; Short=hPanK2; AltName: Full=Pantothenic acid kinase 2; Contains: RecName: Full=Pantothenate kinase 2, mitochondrial intermediate form; Short=iPanK2; Contains: RecName: Full=Pantothenate kinase 2, mitochondria...

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Articles about the PANK2 gene

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