Name: Anti-MTM1 Antibody (CAB13517)
Brand: Metabolism Antibodies 1
SKU: CAB13517
Availability: OutOfStock

Antibody Name:	Anti-MTM1 Antibody
Antibody SKU:	CAB13517
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 484-603 of human MTM1 (NP_000243.1).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Mouse, Rat
Positive Samples:	Mouse thymus

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 484-603 of human MTM1 (NP_000243.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	SARE RQKV TERT VSLW SLIN SNKE KFKN PFYT KEIN RVLY PVAS MRHL ELWV NYYI RWNP RIKQ QQPN PVEQ RYME LLAL RDEY IKRL EELQ LANS AKLS DPPT SPSS PSQM MPHV QTHF
Gene ID:	4534
Uniprot:	Q13496
Cellular Location:	Cell membrane, Cell projection, Cytoplasm, Late endosome, Peripheral membrane protein, filopodium, ruffle
Calculated MW:	66kDa/69kDa
Observed MW:	60kDa

Synonyms:	MTM1, CNM, MTMX, XLMTM
Background:	This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.

UniProt Protein Function:	MTM1: Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine- containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis. Defects in MTM1 are the cause of centronuclear myopathy X-linked (CNMX). A congenital muscle disorder characterized by progressive muscular. weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
UniProt Protein Details:	Protein type:EC 3.1.3.95; Motility/polarity/chemotaxis; EC 3.1.3.64; Protein phosphatase, dual-specificity Chromosomal Location of Human Ortholog: Xq28 Cellular Component: ruffle; I band; late endosome; cytoplasm; plasma membrane; cytosol; filopodium Molecular Function:protein binding; phosphatidylinositol-3-phosphatase activity; intermediate filament binding; protein tyrosine phosphatase activity; phosphoprotein phosphatase activity; phosphoinositide binding Biological Process: muscle maintenance; protein transport; phospholipid metabolic process; phosphatidylinositol biosynthetic process; intermediate filament organization; phosphoinositide dephosphorylation; endosome to lysosome transport; protein amino acid dephosphorylation; mitochondrion distribution Disease: Myopathy, Centronuclear, X-linked
UniProt Code:	Q13496
NCBI GenInfo Identifier:	2851537
NCBI Gene ID:	4534
NCBI Accession:	Q13496.2
Molecular Weight:
NCBI Full Name:	Myotubularin
UniProt Protein Name:	Myotubularin
UniProt Synonym Protein Names:	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase
Protein Family:	Myotubularin
UniProt Gene Name:	MTM1
UniProt Entry Name:	MTM1_HUMAN

Western blot analysis of extracts of mouse thymus, using MTM1 antibody (CAB13517) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s.

Antibodies

Anti-MTM1 Antibody (CAB0255)

MTM1 Antibody (PACO01127)

MTM1 Antibody (PACO10643)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)