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HSD17B4

HGNC:5213 5q2 MIM.601860

Thursday 27 January 2011

The protein encoded by HSD17B4 gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids.

It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. An apparent pseudogene of this gene is present on chromosome 8.

Pathology

Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD).

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. (20673864)

References

- Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Am J Hum Genet. 2010 Aug 13;87(2):282-8. PMID: 20673864