MTMR8 - myotubularin related protein 8 Gene

Homo sapiens

Gene ID: 55613 | Gene type: protein coding

About MTMR8

Cytogenetic location: Xq11.2 Genomic coordinates (GRCh38): X:64,268,081-64,395,452 (from NCBI)

This gene has 4 transcripts (splice variants), 128 orthologues and 13 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]

MTMR8 Products(1)

mRNA	Protein	Name
NM_017677.4	NP_060147.2	myotubularin-related protein 8

MTMR8 Protein Structure

Myotub-related

0
200
400
600
704 a.a.

Protein Preferred Names

Protein Names

myotubularin-related protein 8

phosphatidylinositol-3,5-bisphosphate 3-phosphatase

Related Diseases

Diseases

Alias

Spastic Paraplegia 34, X-Linked

SPG34	Hereditary Spastic Paraplegia 34
X-Linked Spastic Paraplegia Type 34	X-Linked Spastic Paraplegia 34

Osteopathia Striata With Cranial Sclerosis

Hyperostosis Generalisata With Striations	Robinow-Unger Syndrome
OSCS	Osteopathia Striata Cranial Sclerosis
Osteopathia Striata-Cranial Sclerosis Syndrome	Horan-Beighton Syndrome
Os-Cs	Osteopathia Striata - Cranial Sclerosis
Voorhoeve Disease	Osc

Spastic Paraplegia 41, Autosomal Dominant

SPG41	Hereditary Spastic Paraplegia 41
Autosomal Dominant Spastic Paraplegia Type 41	Autosomal Dominant Spastic Paraplegia 41

Spastic Paraplegia 74, Autosomal Recessive

SPG74	Hereditary Spastic Paraplegia 74
Autosomal Recessive Spastic Paraplegia 74	Autosomal Recessive Spastic Paraplegia Type 74
Paraplegia, Spastic, Autosomal Recessive, Type 74

Spastic Paraplegia 81, Autosomal Recessive

SPG81	Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction	Hereditary Spastic Paraplegia 81
Spastic Paraplegia 81 Autosomal Recessive	Doid:0112349

Spastic Paraplegia 64, Autosomal Recessive

SPG64	Hereditary Spastic Paraplegia 64
Autosomal Recessive Spastic Paraplegia Type 64	Autosomal Recessive Spastic Paraplegia 64
Paraplegia, Spastic, Type 64, Autosomal Recessive

Spastic Paraplegia 36, Autosomal Dominant

SPG36	Hereditary Spastic Paraplegia 36
Autosomal Dominant Spastic Paraplegia Type 36	Autosomal Dominant Spastic Paraplegia 36

Spastic Paraplegia 9b, Autosomal Recessive

SPG9B	Autosomal Recessive Complex Spastic Paraplegia Type 9b
Hereditary Spastic Paraplegia 9b	Autosomal Recessive Spastic Paraplegia 9b
Autosomal Recessive Spastic Paraplegia Type 9b	Ar-Spg9b

Spastic Paraplegia 9a, Autosomal Dominant

Hereditary Spastic Paraplegia 9a	SPG9A
Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities	Ad-Spg9a
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome	Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux
Autosomal Dominant Complex Spastic Paraplegia Type 9a	Autosomal Dominant Spastic Paraplegia 9a
Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome	Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities
Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux	Autosomal Dominant Spastic Paraplegia Type 9a
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome	Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
Spastic Paraplegia 9, Autosomal Dominant

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

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-RS08794	MTMR8 Human Pre-designed siRNA Set A		/	Unkown

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