Literature summary for 2.7.7.79 extracted from

Edvardson, S.; Elbaz-Alon, Y.; Jalas, C.; Matlock, A.; Patel, K.; Labbe, K.; Shaag, A.; Jackman, J.E.; Elpeleg, O.
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay (2016), Neurogenetics, 17, 219-225.

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Application

Application	Comment	Organism
medicine	homozygosity for the V55A mutation in THG1L is the cause of an abnormal mitochondrial network in the patient fibroblasts, likely by interfering with THG1L activity towards MFN2	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
V55A	homozygous mutation identified in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. A defect in the protein tRNAHis guanylyltransferase activity is excluded in vitro	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9NWX6	-	-

Synonyms

Synonyms	Comment	Organism
THG1L	-	Homo sapiens

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Release 2023.1 (January 2023)