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IDDPN

Chr 9AR

nudix hydrolase 2

Also known as: APAH1, IDDPN

NCBI Gene: 318 OMIM: 619844

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.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

OMIM ResearchGenerating clinical summary…