IDI1

Chr 10

isopentenyl-diphosphate delta isomerase 1

Also known as: IPP1, IPPI1

NCBI Gene: 3422 ENSG00000067064 UniProt: Q13907 OMIM: 604055

IDI1 encodes a peroxisomal enzyme that catalyzes the interconversion of isopentenyl diphosphate to dimethylallyl diphosphate, essential substrates for cholesterol synthesis. Biallelic mutations cause autosomal recessive intellectual disability with seizures and cataracts, typically presenting in infancy or early childhood. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.08

LOEUF

Mechanism· predicted