Invitrogen™ NHLRC1 Polyclonal Antibody

Rabbit Polyclonal Antibody

Brand:  Invitrogen™ PA5121023

Product Code. 17712424

Description

Positive test controls include: Mouse liver, Mouse brain, Mouse heart, Rat brain, Rat heart, Rat liver. The target is usually found in the following locations: Endoplasmic reticulum, Nucleus. Immunogen sequence: MAAEASESGP ALHELMREAE ISLLECKVCF EKFGHRQQRR PRNLSCGHVV CLACVAALAH PRTLALECPF CRRACRGCDT SDCLPVLHLI ELLGSALRQS PAAHRAAPSA PGALTCHHTF GGWGTLVNPT GLALCPKTGR VVVVHDGRRR VKIFDSGGGC AHQFGEKGDA AQDIRYPVDV TITNDCHVVV TDAGDRSIKV FDFFGQIKLV IGGQFSLPWG VETTPQNGIV VTDAEAGSLH LLDVDFAEGV LRRTERLQAH LCNPRGVAVS WLTGAIAVLE.

Progressive myoclonic epilepsy type 2 (EPM2), also called Lafora disease, is an autosomal recessive disease characterized by grand mal seizures and/or myoclonus at about 15 years of age. Rapid and severe mental deterioration follows, often with psychotic features. Survival is less than 10 years after onset. Starch-like, endoplasmic reticulum-associated polyglucosans, called Lafora bodies, can be observed in brain, muscle, liver and heart. One cause of Lafora disease is due to mutations in NHLRC1, the gene encoding Malin. Forty-nine different mutations in NHLRC1 have been shown to cause EPM2. Malin, also called NHL repeat-containing protein 1, is a single subunit E3 ubiquitin ligase, containing 6 NHL repeats and 1 RING-type zinc finger. Malin's RING domain is responsible for its ability to mediate ubiquitination. Malin interacts with and polyubiquitinates Laforin, a protein also implicated in EPM2. Malin localizes to the endoplasmic reticulum and, to a lesser extent, in the nucleus. Malin is expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.

Specifications

• Antigen: NHLRC1
• Classification: Polyclonal
• Conjugate: Unconjugated
• Gene: NHLRC1
• Gene Alias: AI505271; B230309E09Rik; bA204B7.2; E3 ubiquitin-protein ligase NHLRC1; EPM2A; EPM2B; Malin; NHL repeat containing 1; NHL repeat containing E3 ubiquitin protein ligase 1; NHL repeat-containing protein 1; NHLRC1; RING-type E3 ubiquitin transferase NHLRC1
• Host Species: Rabbit
• Purification Method: Affinity Chromatography
• Regulatory Status: RUO
• Gene ID (Entrez): 105193, 364682, 378884
• Content And Storage: -20°C, Avoid Freeze/Thaw Cycles
• Form: Liquid

• Applications: ELISA, Immunohistochemistry (Paraffin), Western Blot
• Concentration: 7.39 mg/mL
• Formulation: PBS with 50% glycerol and 0.05% ProClin 300; pH 7.3
• Gene Accession No.: Q6IMG5, Q6VVB1, Q8BR37
• Gene Symbols: NHLRC1
• Immunogen: Recombinant fusion protein containing a sequence corresponding to amino acids 1-280 of human NHLRC1 (NP_9409882).
• Quantity: 100 μL
• Primary or Secondary: Primary
• Target Species: Human, Mouse, Rat
• Product Type: Antibody
• Isotype: IgG