L2HGDH
Involvement in disease
L-2-hydroxyglutaric aciduria
L2HGA
A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe intellectual disability. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the L2HGDH family.
Tissue Specificity
Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow.
Cellular localization
- Mitochondrion
Alternative names
C14orf160, L2HGDH, Duranin