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- Table of Contents
Facts about Lipoyltransferase 1, mitochondrial.
.
| Human | |
|---|---|
| Gene Name: | LIPT1 |
| Uniprot: | Q9Y234 |
| Entrez: | 51601 |

| Belongs to: |
|---|
| LplA family |

EC 2.3.1.-; Lipoyl ligase; lipoyltransferase 1; mitochondrial
Mass (kDA):
42.479 kDA

| Human | |
|---|---|
| Location: | 2q11.2 |
| Sequence: | 2; NC_000002.12 (99154967..99163157) |
Highly expressed in skeletal muscle and heart, moderately in kidney and pancreas, and detected at lower levels in liver, brain, placenta and lung.
Mitochondrion.




PMID: 10103005 by Fujiwara K., et al. Molecular cloning, structural characterization and chromosomal localization of human lipoyltransferase gene.
PMID: 24341803 by Soreze Y., et al. Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.