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HSD17B4 gene mutation
Clinical significance:
- HSD17B4 gene mutation associated with
a) D-bifunctional protein deficiency
b) Perrault syndrome
Related
peroxisomal multifunctional enzyme type 2; MFE-2; 17-beta-hydroxysteroid dehydrogenase 4; 17-beta-HSD 4; D-bifunctional protein; DBP; multifunctional protein 2; MPF-2; contains: (3R)-hydroxyacyl-CoA dehydrogenase; enoyl-CoA hydratase 2; 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase (HSD17B4, EDH17B4)
General
gene mutation testing; gene mutation analysis
References
Loinc