| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). CATALYTIC ACTIVITY: NADH + ubiquinone = NAD(+) + ubiquinol. SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein (By similarity). DISEASE: Defects in MT-ND4L are a cause of Leber hereditary optic neuropathy (LHON) [MIM:535000]. LHON is a maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. SIMILARITY: Belongs to the complex I subunit 4L family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-ND4L"; GENE SYNONYMS:MT-ND4L MTND4L NADH4L ND4L. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 98 AA; 10741 MW; 24B91F1DCDB0BE22 CRC64;
|
| biopax3:xref | |
| biopax3:displayName |
NU4LM_HUMAN
|
| biopax3:name |
1.6.5.3,
MT-ND4L,
NADH dehydrogenase subunit 4L
|
| biopax3:organism | |
| biopax3:sequence |
MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC
|
| biopax3:standardName |
NADH-ubiquinone oxidoreductase chain 4L
|