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Rabbit Anti-HECW1/FITC Conjugated antibody
background:
NEDL1 is a 1,606 amino acid cytoplasmic protein predominantly expressed in neurons of adult and fetal brain. NEDL1 functions as an E3 ubiquitin-protein ligase that, characteristic of E3 ligase proteins, accepts ubiquitin (in the form of a thioester) from an E2 ubiquitin-conjugating enzyme and transfers that ubiquitin residue to substrates targeted for degradation. NEDL1 mediates ubiquitination and subsequent degradation of Dvl-1 and targets mutant SOD-1. NEDL1 forms cytotoxic aggregates with Dvl, TRAP-?and mutant SOD1 that lead to motor neuron death in FALS (familial amyotrophic lateral sclerosis). individuals affect by FALS (also known as Lou Gehrig's disease) experience muscle weakness and atrophy throughout the body. FALS is caused by the degeneration of upper and lower motor neurons resulting in loss of signal to muscles.
Function:
E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS.
Subunit:
Interacts with DVL1 and SSR3. Also interacts with mutant SOD1.
Subcellular Location:
Cytoplasm.
Tissue Specificity:
Predominantly expressed in neurons of adult and fetal brain. Weakly expressed in the kidney.
Similarity:
Contains 1 C2 domain.
Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
Contains 2 WW domains.
Database links:
Entrez Gene: 23072 Human
Omim: 610384 Human
SwissProt: Q76N89 Human
Unigene: 164453 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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