LIPT1 gene

lipoyltransferase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Catalyzes the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Lipoyltransferase 1 deficiency

From UniProt:

Lipoyltransferase 1 deficiency (LIPT1D): A disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension. [MIM:616299]

Cytogenetic Location: 2q11.2, which is the long (q) arm of chromosome 2 at position 11.2

Molecular Location: base pairs 99,154,955 to 99,163,157 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q11.2, which is the long (q) arm of chromosome 2 at position 11.2
  • LIPT1D