Thermo Fisher Scientific NHLRC1 Polyclonal Antibody

Applications and Tested Dilutions

Product Specifications

Product Specific Information

Positive test controls include mouse liver, mouse brain, mouse heart, rat brain, rat heart, and rat liver.
The target is typically localized in the endoplasmic reticulum and 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

Target Information

Progressive myoclonic epilepsy type 2 (EPM2), also known as Lafora disease, is an autosomal recessive disorder characterized by seizures and myoclonus typically beginning around age 15. The disease leads to rapid mental deterioration and reduced survival.
Lafora bodies, which are polyglucosans associated with the endoplasmic reticulum, can be found in brain, muscle, liver, and heart tissues.

Mutations in NHLRC1, encoding the Malin protein, are one cause of Lafora disease. Malin is an E3 ubiquitin ligase containing six NHL repeats and one RING-type zinc finger domain. It mediates ubiquitination and interacts with Laforin, another protein implicated in EPM2.
Malin localizes primarily to the endoplasmic reticulum and, to a lesser extent, the nucleus, and is expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle, and pancreas.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.