Multiple inositol polyphosphate phosphatase 1
The MINPP1 gene encodes a inositol polyphosphate phosphatase which is likely to be involved in signal transduction. Mutations cause autosomal domimant follicular thyroid carcinoma.
Genetests:
Related Diseases:
References:
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Caffrey JJ et al. (1999) The human and rat forms of multiple inositol polyphosphate phosphatase: functional homology with a histidine acid phosphatase up-regulated during endochondral ossification.
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Chi H et al. (1999) Multiple inositol polyphosphate phosphatase: evolution as a distinct group within the histidine phosphatase family and chromosomal localization of the human and mouse genes to chromosomes 10q23 and 19.
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Chi H et al. (2000) Targeted deletion of Minpp1 provides new insight into the activity of multiple inositol polyphosphate phosphatase in vivo.
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Gimm O et al. (2001) Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.
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Orphanet article
Orphanet ID 484336
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NCBI article
NCBI 9562
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OMIM.ORG article
Omim 605391
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8. |
Wikipedia article
Wikipedia EN (MINPP1)
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Update: Aug. 14, 2020