MTMR12
Myotubularin related protein 12 is a protein that in humans is encoded by the MTMR12 gene.[5]
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| Aliases | MTMR12, 3-PAP, PIP3AP, myotubularin related protein 12 | ||||||||||||||||||||||||
| External IDs | OMIM: 606501 MGI: 2443034 HomoloGene: 10403 GeneCards: MTMR12 | ||||||||||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||||||||||
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| Location (UCSC) | Chr 5: 32.23 – 32.31 Mb | Chr 15: 12.21 – 12.27 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
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Function
Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
References
- GRCh38: Ensembl release 89: ENSG00000150712 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000039458 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Myotubularin related protein 12". Retrieved 2017-05-19.
Further reading
- Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell KK, Mochizuki Y, Majerus PW, Mitchell CA (2003). "Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 8660–5. doi:10.1073/pnas.1033097100. PMC 166368. PMID 12847286.
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
- Ritter BP, Angelo GW, Durner M, Rossy-Fullana E, Carrion-Baralt J, Silverman JM, Bespalova IN (2012). "Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia". Psychiatr. Genet. 22 (1): 51–2. doi:10.1097/YPG.0b013e3283463dd7. PMID 21451436.
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