From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Myotubularin related protein 14 also known as MTMR14 is a
protein which in humans is encoded by the MTMR14
gene.
[5]
Function
Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a
phosphatidylinositol-3-phosphatase that
dephosphorylates the same substrates as
myotubularin,
PtdIns(3)P and
PtdIns(3,5)P2.
[6]
Clinical significance
Mutations in the MTMR14 gene are associated with
myotubular myopathy.
[6]
References
- ^
a
b
c
GRCh38: Ensembl release 89: ENSG00000163719 –
Ensembl, May 2017
- ^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000030269 –
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.
-
^ Alonso A, Sasin J, Bottini N, Friedberg I, Friedberg I, Osterman A, Godzik A, Hunter T, Dixon J, Mustelin T (June 2004).
"Protein tyrosine phosphatases in the human genome". Cell. 117 (6): 699–711.
doi:
10.1016/j.cell.2004.05.018.
PMID
15186772.
S2CID
18072568.
- ^
a
b Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J (November 2006).
"A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy". Hum. Mol. Genet. 15 (21): 3098–106.
doi:
10.1093/hmg/ddl250.
PMID
17008356.
Further reading
- Yu W, Andersson B, Worley KC, et al. (1997).
"Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8.
doi:
10.1101/gr.7.4.353.
PMC
139146.
PMID
9110174.
- Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13.
doi:
10.1006/abio.1996.0138.
PMID
8619474.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.
Bibcode:
2002PNAS...9916899M.
doi:
10.1073/pnas.242603899.
PMC
139241.
PMID
12477932.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006).
"Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65.
doi:
10.1101/gr.4039406.
PMC
1356129.
PMID
16344560.
- Simpson JC, Wellenreuther R, Poustka A, et al. (2000).
"Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92.
doi:
10.1093/embo-reports/kvd058.
PMC
1083732.
PMID
11256614.