hydroxysteroid 17-beta dehydrogenase 4

Normal function

Der HSD17B4 gene provides instructions for making the D-bifunctional protein. This protein is an enzyme, which means that it helps specific biochemical reactions take place. D-bifunctional protein is so named because it aids in two biochemical reactions.

The D-bifunctional protein is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The D-bifunctional protein is involved in the breakdown of certain molecules called fatty acids. The protein has two separate regions (domains) with enzyme activity, called the hydratase and dehydrogenase domains. These domains help carry out the second and third steps, respectively, of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the fatty acid molecules by two carbon atoms at a time until the fatty acids are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell.

Conditions referring to this gene or chromosome

• D-bifunctional protein deficiency

• Perrault syndrome

Other names

17-beta-HSD 4

17-beta-HSD IV

17-beta-hydroxysteroid dehydrogenase 4

17beta-estradiol dehydrogenase type IV

3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase

beta-hydroxyacyl dehydrogenase

beta-keto-reductase

D-3-hydroxyacyl-CoA dehydratase

D-bifunctional protein, peroxisomal

DBP

hydroxysteroid (17-beta) dehydrogenase 4

MFE-2

MPF-2

multifunctional protein 2

peroxisomal multifunctional enzyme type 2

peroxisomal multifunctional protein 2

PRLTS1

SDR8C1

short chain dehydrogenase/reductase family 8C, member 1