Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
pantothenate kinase-associated neurodegeneration gene
PKAN gene |
| gptkbp:associatedPhenotype |
cognitive decline
spasticity dystonia parkinsonism pigmentary retinopathy iron accumulation in basal ganglia |
| gptkbp:associatedWith |
Hallervorden-Spatz syndrome
pantothenate kinase-associated neurodegeneration |
| gptkbp:biologicalProcess |
regulates coenzyme A biosynthesis
|
| gptkbp:clinicalTrialPhase |
yes
|
| gptkbp:database |
gptkb:GeneCards
gptkb:NCBI_Gene gptkb:Ensembl |
| gptkbp:discoveredIn |
2001
|
| gptkbp:encodes |
pantothenate kinase 2
|
| gptkbp:Entrez_Gene_ID |
80025
|
| gptkbp:expressedIn |
mitochondria
|
| gptkbp:fullName |
pantothenate kinase 2
|
| gptkbp:function |
catalyzes the first step in coenzyme A biosynthesis
|
| gptkbp:gene |
PANK2
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
8595
|
| https://www.w3.org/2000/01/rdf-schema#label |
PANK2 gene
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:inheritanceMode |
recessive
|
| gptkbp:length |
570 amino acids
~35 kb |
| gptkbp:locatedOnChromosome |
gptkb:20p13
chromosome 20 |
| gptkbp:mutationAssociatedWith |
nonsense
missense frameshift splice-site causes neurodegeneration with brain iron accumulation |
| gptkbp:numberOfExons |
7
|
| gptkbp:OMIM |
606157
|
| gptkbp:orthologInMouse |
Pank2
|
| gptkbp:pathway |
pantothenate and CoA biosynthesis
|
| gptkbp:proteinFamily |
mitochondrial targeting sequence
pantothenate kinase domain pantothenate kinase family |
| gptkbp:referenceGenome |
gptkb:GRCh38
|
| gptkbp:subcellularLocation |
mitochondrial matrix
|
| gptkbp:UniProtID |
Q9BZ23
|
| gptkbp:bfsParent |
gptkb:Hallervorden–Spatz_disease
|
| gptkbp:bfsLayer |
7
|