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 Metabolism and Viral mRNA Translation. 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.