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

More general terms

• pantothenate kinase

Database

• OMIM: https://mirror.omim.org/entry/606157
• OMIM: https://mirror.omim.org/entry/607236
• OMIM: https://mirror.omim.org/entry/234200
• UniProt: http://www.uniprot.org/uniprot/Q9BZ23.html