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IDDPN

Chr 9AR

nudix hydrolase 2

Also known as: APAH1, IDDPN

IDDPN encodes a NUDIX hydrolase that asymmetrically hydrolyzes Ap4A to yield AMP and ATP, maintaining intracellular levels of the dinucleotide Ap4A. Biallelic mutations cause autosomal recessive intellectual developmental disorder with or without peripheral neuropathy. The condition affects cognitive development and may involve the peripheral nervous system.

OMIMResearchSummary from RefSeq, OMIM
AR1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/IDDPN?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IDDPN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

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Clinical Literature
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No publications found for IDDPN