Goat anti-Human Laforin Antibody | anti-EPM2A antibody

Laforin

Cat. Num. AAA555926

• Gene Names: EPM2A; EPM2; MELF
• Reactivity: Human
• Applications: Western Blot, Immunohistochemistry
• Purity: Affinity Purified
• Synonyms: Laforin; anti-EPM2A antibody

• Host: Goat
• Reactivity: Human
• Isotype: IgG
• Purity/Purification: Affinity Purified
• Form/Format: Liquid
• Sequence Length: 344

• Applicable Applications for anti-EPM2A antibody: Western Blot (WB), Immunohistochemistry (IHC)
• Immunogen: Synthetic peptide with sequence C-EATGHTNEMKHTTD, from the internal region of the protein sequence according to NP_005661.1.

Immunohistochemistry (IHC)

(Laforin (dilution: 2.8 ug/ml) staining of paraffin embedded Human Cerebellum. Steamed antigen retrieval with citrate buffer pH 6, AP-staining. Protocol on data-sheet.)

Immunohistochemistry (IHC)

(Laforin (dilution: 0.1ug/ml) staining of Human Cerebellum lysate (35ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.)

Related Product Information for anti-EPM2A antibody

Laforin is encoded bt the EMP2A gene and plays a critical role in the survival of neurons in the brain. Laforin is also expressed in many other cells throughout the body and has multiple functions. To carry out these functions, laforin interacts with several other proteins, including malin (which is produced from the NHLRC1 gene). These proteins are part of complex networks that transmit chemical signals and break down unneeded or abnormal proteins.

Mutations in the EPM2A gene lead to the major features of Lafora progressive myoclonus epilepsy. Additionally, laforin may act as a tumor suppressor protein.

NCBI and Uniprot Product Information

• NCBI GI #: 380876884
• NCBI GeneID: 7957
• UniProt Accession #: B3EWF7; O95278
• NCBI Official Full Name: Laforin, isoform 9
• NCBI Official Synonym Full Names: EPM2A glucan phosphatase, laforin
• NCBI Official Symbol: EPM2A
• NCBI Official Synonym Symbols: EPM2; MELF
• NCBI Protein Information: laforin
• UniProt Protein Name: Laforin, isoform 9
• Protein Family: Laforin
• UniProt Gene Name: EPM2A

NCBI Description

This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]