myotubularin related protein 6

Summary
Gene Symbol
  • MTMR6
Organism
Homo sapiens (human)
NCBI Gene
9107
HGNC
7453
KEGG Gene ID
hsa:9107
PubChem
9107
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Cell projection
  • Cytoplasm
  • Endocytosis
  • Endoplasmic reticulum
  • Hydrolase
  • Lipid metabolism
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q9Y217
  • Phosphatidylinositol-3,5-bisphosphate 3-phosphatase
  • Phosphatidylinositol-3-phosphate phosphatase
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
myotubularin
Functional Category
  • E: Amino acid transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
KEGG BRITE Database
Orthology
K18083
Name
myotubularin-related protein 6/7/8 [EC:3.1.3.64 3.1.3.95]
References
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0111225 centronuclear myopathy X-linked
DOID:10595 Charcot-Marie-Tooth disease
DOID:14717 centronuclear myopathy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024