QuickView for PANK2 (gene)

Gene Symbol:

PANK2 Homo sapiens

Full name:

pantothenate kinase 2

Synonyms:

C20orf48, HARP, HSS, NBIA1, PKAN, pantothenate kinase 2, mitochondrial, Hallervorden-Spatz syndrome, pantothenic acid kinase 2

Genomic Location:

Chr 20: 3817486-3852502

Description:

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to ...

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This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  CGGAARNGGCNG_UNKNOWN ,  GCAAGGA_MIR502 ,  CTTTGA_LEF1_Q2 ,  MYAATNNNNNNNGGC_UNKNOWN ,  TCF4_Q5 ,  GCTCTTG_MIR335 ,  ACCAAAG_MIR9 ,  CCTGCTG_MIR214 ,  GTCNYYATGR_UNKNOWN ,  AAGCACT_MIR520F ,  CTTTGT_LEF1_Q2 ,  ACCATTT_MIR522 ,  GTTRYCATRR_UNKNOWN ,  CP2_01

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Cytogenetic Map:

20p13

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