ELK Biotechnology NU4LM rabbit pAb

제품명

NU4LM rabbit pAb

제품 정보

Background

Catalytic activity:
NADH + ubiquinone = NAD(+) + ubiquinol.

Disease associations:

• Defects in MT-ND4 cause Leber hereditary optic neuropathy (LHON) [MIM:535000], a maternally inherited disease leading to acute or subacute central vision loss due to optic nerve dysfunction. Some patients also show cardiac conduction and neurological defects.
• Defects in MT-ND4 also cause Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001], characterized by optic atrophy, central vision loss, and dystonia.
• Defects in MT-ND4 are linked to mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) [MIM:540000], a disorder with episodic vomiting, seizures, and stroke-like cerebral insults.
• Defects in MT-ND4L cause Leber hereditary optic neuropathy (LHON) [MIM:535000].

Function:
Core subunit of mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), essential for catalysis. Complex I mediates electron transfer from NADH to the respiratory chain, with ubiquinone as the immediate electron acceptor.

Similarity:
Belongs to the complex I subunit 4 and subunit 4L families.