Literature summary for 1.1.1.211 extracted from

Polinati, P.P.; Ilmarinen, T.; Trokovic, R.; Hyotylainen, T.; Otonkoski, T.; Suomalainen, A.; Skottman, H.; Tyni, T.
Patient-specific induced pluripotent stem cell-derived RPE cells: understanding the pathogenesis of retinopathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (2015), Invest. Ophthalmol. Vis. Sci., 56, 3371-3382.

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Protein Variants

Protein Variants	Comment	Organism
E510Q	naturally occuring common homozygous mutation in the trifunctional protein alpha-subunit gene HADHA (hydroxyacyl-CoA dehydrogenase), c.1528G>C, affects the long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activity of trifunctional protein and causes blindness in infancy due to LCHAD deficiency in the retinal pigment epithelium, phenotype, overview	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P40939	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
retinal pigment epithelium	retinal pigment epithelial monolayers are constructed by human induced pluripotent stem cell retina technology	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
LCHAD	-	Homo sapiens
long-chain 3-hydroxyacyl-CoA dehydrogenase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	the common homozygous mutation in the trifunctional protein alpha-subunit gene HADHA (hydroxyacyl-CoA dehydrogenase), c.1528G>C, affects the long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activity of trifunctional protein and causes blindness in infancy. LCHAD deficiency patient retinal pigment epithelia have intense cytoplasmic neutral lipid accumulation, and lipidomic analysis reveals an increased triglyceride accumulation. Patient retinal pigment epithelia are small and irregular in shape, and their tight junctions are disorganized. Their ultratructure shows decreased pigmentation, few melanosomes, and more melanolysosomes. Early pathogenic changes in LCHADD retinopathy occur with robust lipid accumulation, inefficient pigmentation that is evident soon after differentiation, and a defect in forming tight junctions inducing apoptosis. LCHADD-retinal pigment epithelia are an important model for mitochondrial trifunctional protein (TFP) retinopathy	Homo sapiens

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Release 2023.1 (January 2023)