Gene Symbol | LIPT1 |
Entrez Gene ID | 51601 |
Full Name | lipoyltransferase 1 |
Synonyms | LIPT1D |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011]. |
Disorder MIM: | |
Disorder Html: | Lipoyltransferase 1 deficiency, 616299 (3) |