Gene Symbol | LIPT2 |
Entrez Gene ID | 387787 |
Full Name | lipoyl(octanoyl) transferase 2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. |
Disorder MIM: | |
Disorder Html: | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3) |