LIPT1 Chromosome 2
Lipoyltransferase 1
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What This Gene Does
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]
Associated Conditions (9)
Lipoyl transferase 1 deficiency
LIPT1-related disorder
Inborn genetic diseases
Hypotonia
Abnormal cardiovascular system morphology
Failure to thrive
Hearing impairment
Abnormal optic nerve morphology
Leigh syndrome
Key Variants
RS137973334
Conflicting classifications of pathogenicity
Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency
Health Risk
RS150683925
Conflicting classifications of pathogenicity
LIPT1-related disorder, Inborn genetic diseases, LIPT1-related disorder
Health Risk
RS1553515438
Conflicting classifications of pathogenicity
Health Risk
RS552120721
Conflicting classifications of pathogenicity
Hypotonia, Abnormal cardiovascular system morphology, Failure to thrive
Health Risk
RS576171217
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS757713207
Conflicting classifications of pathogenicity
Health Risk
RS780042765
Conflicting classifications of pathogenicity
Lipoyl transferase 1 deficiency, Leigh syndrome, Lipoyl transferase 1 deficiency
Health Risk
RS1468529365
Likely pathogenic
Lipoyl transferase 1 deficiency, Inborn genetic diseases, Lipoyl transferase 1 deficiency
Health Risk
RS367951310
Likely pathogenic
Health Risk
RS767568897
Likely pathogenic
Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency
Health Risk
RS863224892
Likely pathogenic
Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency
Health Risk
RS786205156
Pathogenic
Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137973334 | Health Risk | Conflicting classifications of pathogenicity | Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency |
| RS150683925 | Health Risk | Conflicting classifications of pathogenicity | LIPT1-related disorder, Inborn genetic diseases, LIPT1-related disorder |
| RS1553515438 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS552120721 | Health Risk | Conflicting classifications of pathogenicity | Hypotonia, Abnormal cardiovascular system morphology, Failure to thrive |
| RS576171217 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757713207 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780042765 | Health Risk | Conflicting classifications of pathogenicity | Lipoyl transferase 1 deficiency, Leigh syndrome, Lipoyl transferase 1 deficiency |
| RS1468529365 | Health Risk | Likely pathogenic | Lipoyl transferase 1 deficiency, Inborn genetic diseases, Lipoyl transferase 1 deficiency |
| RS367951310 | Health Risk | Likely pathogenic | — |
| RS767568897 | Health Risk | Likely pathogenic | Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency |
| RS863224892 | Health Risk | Likely pathogenic | Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency |
| RS786205156 | Health Risk | Pathogenic | Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency |
| RS137891647 | Health Risk | Pathogenic/Likely pathogenic | Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency |