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Gene Review:

DDP1 - polyphosphatase DDP1

Saccharomyces cerevisiae S288c

Synonyms: Ap6A hydrolase, Diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase, Diadenosine and diphosphoinositol polyphosphate phosphohydrolase 1, Diadenosine hexaphosphate hydrolase (AMP-forming), Diphosphoinositol polyphosphate phosphohydrolase DDP1, ...

Bauer, M.F. et al.

Bauer, Neupert,

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Disease relevance of DDP1

This rare X-linked progressive neurodegenerative disorder, named Mohr-Tranebjaerg (MT syndrome), is caused by mutations in the DDP1 gene and includes sensorineural deafness, blindness, mental retardation and a complex movement disorder [1].

High impact information on DDP1

The analysis of the novel pathomechanism is based on the homology of the affected DDP1 protein to a family of conserved yeast components acting along the TIM22 pathway [1].

References

Import of proteins into mitochondria: a novel pathomechanism for progressive neurodegeneration. Bauer, M.F., Neupert, W. J. Inherit. Metab. Dis. (2001) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

AGOS_AGR266C	Ashbya gossypii ATCC 10895
KLLA0F20273g	Kluyveromyces lactis NRRL Y-1140
MGG_06680	Magnaporthe oryzae 70-15
NCU01804	Neurospora crassa OR74A
aps1	Schizosaccharomyces pombe 972h-

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