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Protein-coding gene in the species Homo sapiens
Pantothenate kinase 2, mitochondrial is an enzyme that in humans is encoded by the PANK2 gene. This gene encodes a protein belonging to the pantothenate kinase family
PANK2
Genetic neurodegenerative disease with brain iron accumulation
builds up in the brain. PKAN is caused by loss of function of the enzyme PANK2, due to bi-allelic genetic mutations. It follows autosomal recessive inheritance
Pantothenate kinase-associated neurodegeneration
Pantothenate_kinase-associated_neurodegeneration
Class of enzymes
PanK1, PanK2, PanK3 and PanK4. In humans, multiple PanK isoforms are expressed by four genes. PANK1 gene encodes the PanK1α and PanK1β forms, and PANK2 and
Pantothenate_kinase
Protein-coding gene in the species Homo sapiens
to the pantothenate kinase family, which in mammals is made of up PANK1, PANK2, PANK3, and PANK4. Pantothenate kinase is a key regulatory enzyme in the
PANK1
Group of neurodegenerative disorders with associated iron accumulation in the brain
MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations". primary. American Journal of Neuroradiology. 27 (6): 1230–3
Neurodegeneration with brain iron accumulation
Neurodegeneration_with_brain_iron_accumulation
Pharmaceutical compound
positive allosteric modulator (PAM) of pantothenate kinases 1 and 3 (PANK1 and PANK2) which are critical for coenzyme A biosynthesis and cellular metabolism
Claziprotamide
2p15 autosomal recessive Pantothenate kinase-associated neurodegeneration PANK2 (20p13–p12.3) recessive 1-3:1,000,000 Patau syndrome (Trisomy 13) 13 trisomy
List_of_genetic_disorders
Human chromosome
protein Otoraplin OXT: encoding protein Oxytocin/neurophysin i prepropeptide PANK2: pantothenate kinase 2 (pantothenate kinase-associated neurodegeneration)
Chromosome_20
Group of neurological genetic diseases involving misshapen spiky red blood cells
neurodegeneration, an autosomal recessive condition caused by mutations in PANK2. Huntington's disease-like syndrome type 2, an autosomal dominant condition
Neuroacanthocytosis
Hallervorden-Spatz syndrome Rare genetic disorder caused by mutations in the PANK2 gene Julius Hallervorden Pantothenate kinase-associated neurodegeneration
List of medical eponyms with Nazi associations
List_of_medical_eponyms_with_Nazi_associations
Means of delivering drugs to a cell
metabolites in inborn errors of metabolism, such as phosphopantothenate for PANK2 deficiency, however these were a clinical failure. Mehellou Y, Rattan HS
Protide
Protein-coding gene in the species Homo sapiens
Gitschier J, Hayflick SJ (Jul 2001). "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome". Nat Genet. 28 (4): 345–9
PANK4
Q504Q3 11683 PAN3 HGNC:29991; Q58A45 11684 PANK1 HGNC:8598; Q8TE04 11685 PANK2 HGNC:15894; Q9BZ23 11686 PANK3 HGNC:19365; Q9H999 11687 PANK4 HGNC:19366;
List of human protein-coding genes 6
List_of_human_protein-coding_genes_6
Syndrome; 140000; HOXA13 Harderoporphyria; 121300; CPOX HARP syndrome; 607236; PANK2 Hartnup disorder; 234500; SLC6A19 Hawkinsinuria; 140350; HPD Hay–Wells syndrome;
List_of_OMIM_disorder_codes
PANK2
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