Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

LIPT2

lipoyl(octanoyl) transferase 2

Chromosome
11
Cytoband
11q13.4
Variants (rsID)
2

LIPT2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.4). Its official name is “lipoyl(octanoyl) transferase 2”. The reference table lists 2 variants (rsID) for this gene.

Clinically classified variants

1 reference-table entries with clinical significance.

  • rs17215437Conflicting interpretationssingle nucleotide variantPeriodic paralysis|Cardiovascular phenotype|Syncope|Ventricular fibrillation|Brugada syndrome 6|Cardiomyopathy|Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.