Official symbol | NDUFA2 |
Gene id | 4695 |
Organism | Homo sapiens |
Official full symbol | NADH:ubiquinone oxidoreductase subunit A2 |
Gene type | protein-coding |
Also known as | B8, CD14, CIB8, MC1DN13 |
Summary | The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants. |
Genomic regions | Chromosome 5 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
NDUFA2-201 | ENST00000252102.9 | 649 | 99aa | Protein coding | CCDS4234 | O43678-1 | NM_002488.5 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
NDUFA2-204 | ENST00000512088.1 | 627 | 76aa | Protein coding | CCDS54911 | O43678-2 | - | TSL:2, GENCODE basic, |
NDUFA2-203 | ENST00000510680.1 | 576 | No protein | Processed transcript | - | - | - | TSL:2, |
NDUFA2-202 | ENST00000502960.1 | 721 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | NDUFA2 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene NDUFA2 had been KO in hela cell line. |
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