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HSD17B4 (NM_000414) - hydroxysteroid 17-beta dehydrogenase 4

Peroxisomal Multifunctional Enzyme Type 2 Isoform 2

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of HSD17B4 protein. View all 5 isoforms
HSD17B4: peroxisomal multifunctional enzyme type 2 isoform 2
Description:

The protein encoded by this 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. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014].

Strand
+
Chromosome
5
Protein
736 residues
All mutations
161
PTM sites
37
CDS
118,788,270 - 118,877,689
Transcription
118,788,137 - 118,878,030
5.84% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 3295
UniProt
Ensembl