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pantothenate kinase 2 (PANK2, hPANK2, C20orf48)
Function:
- regulates CoA biosynthesis
- regulated by feedback inhibition by CoA & its thioesters
- cofactor biosynthesis, coenzyme A biosynthesis
- coenzyme A from pantothenate: step 1/5
ATP + (R)-pantothenate ADP + (R)-4'-phosphopantothenate
Structure: belongs to the type 2 pantothenate kinase family
Compartment:
- cytoplasm, mitochondrion
Alternative splicing:
- alternative initiation
- named isoforms=3
- produced by alternative initiation at Met-124 of isoform 1
- Leu-111 may also serve as an alternative initiation codon
Expression:
- ubiquitous
Pathology:
- defects in PANK2 are the cause of pantothenate kinase-associated neurodegeneration (PKAN), Hallervorden-Spatz syndrome
- defects in PANK2 are the cause of HARP syndrome
General
pantothenate kinase
Properties
SIZE: entity length = 570 aa
MW = 63 kD
COMPARTMENT: mitochondria
cytoplasm
MOTIF: glutamate-rich region {236-243}
MOTIF: glutamate residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 606157
UniProt Q9BZ23
ENZYME 2.7.1.33
References
- UniProt :accession Q9BZ23
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK2