Aliases for LIPT1 Gene
External Ids for LIPT1 Gene
Previous GeneCards Identifiers for LIPT1 Gene
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]
GeneCards Summary for LIPT1 Gene
LIPT1 (Lipoyltransferase 1) is a Protein Coding gene. Diseases associated with LIPT1 include lipoyltransferase 1 deficiency and leigh syndrome with leukodystrophy. Among its related pathways are Glyoxylate metabolism and glycine degradation and Metabolism. GO annotations related to this gene include transferase activity, transferring acyl groups.
UniProtKB/Swiss-Prot for LIPT1 Gene
Catalyzes the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes.