full name
myotubularin 1

synonyms
CNM, MTMX, XLMTM, MTM1, ENSG00000171100

HGNC
HGNC:7448

Entrez Gene
Gene:4534

ENSEMBL
ENSG00000171100
ENSG00000269031

location
chr: X
start: 149731104
stop: 149841616
strand: +

OMIM
OMIM:300415: MTM1 (X-linked recessive inheritance)
OMIM:310400: Myotubular myopathy, X-linked

transcripts
NM_000252.2

pathways
Inositol phosphate metabolism [NCBI:82987] [KEGG:hsa00562] [NCBI:1269988] [REACTOME:R-HSA-1483249] [PUBMED:17943301] [PUBMED:18310071] [PUBMED:20414202] [PUBMED:11331907] [PUBMED:20359876] [PUBMED:14993306] [PUBMED:16781889]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
PI Metabolism [NCBI:1270073] [REACTOME:R-HSA-1483255] [PUBMED:17035995] [PUBMED:18216768] [PUBMED:17330069] [PUBMED:15170460] [PUBMED:16828287] [PUBMED:18726176] [PUBMED:20861159] [PUBMED:19196647] [PUBMED:20043944] [PUBMED:20192774] [PUBMED:18784754] [PUBMED:20559318] [PUBMED:18216767] [PUBMED:17605038] [PUBMED:15269334]
Phosphatidylinositol signaling system [NCBI:83052] [KEGG:hsa04070] [PUBMED:19439500] [PUBMED:19580826]
Phospholipid metabolism [NCBI:1270053] [REACTOME:R-HSA-1483257] [PUBMED:9242906]
Synthesis of PIPs at the early endosome membrane [NCBI:1270079] [REACTOME:R-HSA-1660516] [PUBMED:18950639] [PUBMED:11733541] [PUBMED:18524850] [PUBMED:17556371] [PUBMED:17651088] [PUBMED:10805725]
Synthesis of PIPs at the late endosome membrane [NCBI:1270082] [REACTOME:R-HSA-1660517] [PUBMED:18524850] [PUBMED:17556371] [PUBMED:17651088] [PUBMED:10805725] [PUBMED:11733541] [PUBMED:18950639]
Synthesis of PIPs at the plasma membrane [NCBI:1270077] [REACTOME:R-HSA-1660499] [PUBMED:16399794] [PUBMED:12646134] [PUBMED:10224048] [PUBMED:9113989] [PUBMED:9211928] [PUBMED:12536145] [PUBMED:22647598] [PUBMED:11733541] [PUBMED:9660759] [PUBMED:19896968]