HECW1
Description
The HECW1 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1) is a protein-coding gene located on chromosome 7.
HECW1 is a protein encoded by the HECW1 gene in humans. It contains 1606 amino acids (179.5 kDa) and has an isoelectric point of 5.18.
HECW1 is an E3 ubiquitin-protein ligase that targets DVL1 for ubiquitination and degradation. It also targets mutant SOD1, a protein associated with familial amyotrophic lateral sclerosis (FALS). HECW1 forms cytotoxic aggregates with DVL1, SSR3, and mutant SOD1, leading to motor neuron death in FALS.
HECW1 is also known as NEDL1.
Associated Diseases
- nonpapillary renal cell carcinoma
- spinocerebellar ataxia type 15/16
- X-linked dystonia-parkinsonism
- hypoparathyroidism, familial isolated, 2
- X-linked parkinsonism-spasticity syndrome
- spinocerebellar ataxia type 20
- torsion dystonia 2
- isolated dystonia
- optic atrophy 2
- pseudohypoparathyroidism type 2
- X-linked non progressive cerebellar ataxia
