Identification of PAHX, a Refsum disease gene (Q24317467)

phytanoyl-CoA dioxygenase activity

1 reference

Phytanoyl-CoA hydroxylase

1 reference

Pex7p YDR142C

1 reference

6

S J Gould

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author name string

S J Mihalik

1

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J C Morrell

2

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D Kim

3

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K A Sacksteder

4

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P A Watkins

https://scigraph.springernature.com/pub.10.1038/ng1097-185

5

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language of work or name

English

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publication date

October 1997

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published in

Nature Genetics

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volume

17

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page(s)

185-9

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issue

2

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exact match

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cites work

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

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A novel genetic system to detect protein-protein interactions

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Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

20 April 2017

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Basic local alignment search tool

20 April 2017

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Polymerase chain reaction-based cloning of alkyl-dihydroxyacetonephosphate synthase complementary DNA from guinea pig liver

20 April 2017

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Differential protein import deficiencies in human peroxisome assembly disorders

21 January 2018

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Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins

21 January 2018

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A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation

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Cloning and functional expression of a mammalian gene for a peroxisomal sarcosine oxidase

21 January 2018

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Isolation of monoclonal antibodies specific for human c-myc proto-oncogene product

21 January 2018

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Phytanic acid alpha-oxidation in rat liver peroxisomes. Production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors

21 January 2018

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7 January 2021

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family

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7 January 2021

Protein import into peroxisomes and biogenesis of the organelle

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7 January 2021

Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease

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7 January 2021

Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder

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7 January 2021

An STS-based map of the human genome

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7 January 2021

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor

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7 January 2021

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene

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7 January 2021