LIPT2 gene

lipoyl(octanoyl) transferase 2

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

From NCBI Gene:

This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

From UniProt:

Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein onto the lipoyl domains of lipoate-dependent enzymes, which catalyze essential redox reactions (PubMed:28757203). Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate.

From NCBI Gene:

  • ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES

From UniProt:

Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (NELABA): An autosomal recessive disorder characterized by severe encephalopathy with neonatal onset, metabolic features including lactic acidosis, little or no psychomotor development, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities. [MIM:617668]

Cytogenetic Location: 11q13.4, which is the long (q) arm of chromosome 11 at position 13.4

Molecular Location: base pairs 74,490,511 to 74,493,713 on chromosome 11 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 11q13.4, which is the long (q) arm of chromosome 11 at position 13.4