MTMR6 - myotubularin related protein 6 Gene

Homo sapiens

Gene ID: 9107 | Gene type: protein coding

About MTMR6

Cytogenetic location: 13q12.13 Genomic coordinates (GRCh38): 13:25,246,222-25,287,488 (from NCBI)

This gene has 2 transcripts (splice variants), 225 orthologues and 13 paralogues. Ubiquitous expression in testis (RPKM 13.0), adrenal (RPKM 12.0) and 25 other tissues.

Summary

Enables phosphatidylinositol-3,5-bisphosphate Phosphatase activity and phosphatidylinositol-3-phosphatase activity. Involved in phosphatidylinositol dephosphorylation. Located in cytoplasm and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]

MTMR6 Products(10)

mRNA	Protein	Name
NM_001385230.1	NP_001372159.1	myotubularin-related protein 6 isoform 2
NM_001385231.1	NP_001372160.1	myotubularin-related protein 6 isoform 3
NM_001385232.1	NP_001372161.1	myotubularin-related protein 6 isoform 4
NM_001385233.1	NP_001372162.1	myotubularin-related protein 6 isoform 5
NM_001385234.1	NP_001372163.1	myotubularin-related protein 6 isoform 6
NM_001385235.1	NP_001372164.1	myotubularin-related protein 6 isoform 7
NM_001385236.1	NP_001372165.1	myotubularin-related protein 6 isoform 8
NM_001385237.1	NP_001372166.1	myotubularin-related protein 6 isoform 9
NM_001385238.1	NP_001372167.1	myotubularin-related protein 6 isoform 10
NM_004685.5	NP_004676.3	myotubularin-related protein 6 isoform 1

MTMR6 Protein Structure

Myotub-related

0
100
200
300
400
500
621 a.a.

Protein Preferred Names

Protein Names

myotubularin-related protein 6

phosphatidylinositol-3,5-bisphosphate 3-phosphatase

Related Diseases

Diseases

Alias

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Hemolytic Disease Of Fetus And Newborn, Rh-Induced

Rh Deficiency Syndrome	Rh Disease
HDFNRH	Rh Fetomaternal Incompatibility
Rh-Null Syndrome

Charcot-Marie-Tooth Disease, Type 4b1

Charcot-Marie-Tooth Disease Type 4b1	CMT4B1
Cmt4b	Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Disease Type 4b	Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1
Charcot-Marie-Tooth Neuropathy, Type 4b1	Charcot-Marie-Tooth Disease, Type 4b
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1	Charcot-Marie-Tooth Disease 4b1
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08792	MTMR6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MTMR6	VGNC	VGNC:31744
Canis familiaris	MTMR6	VGNC	VGNC:43486
Macaca mulatta	MTMR6	VGNC	VGNC:75075
Felis catus	MTMR6	VGNC	VGNC:68349
Rattus norvegicus	MTMR6	RGD	RGD:1305378
Mus musculus	MTMR6	MGD	MGI:2145637

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