HSD17B4 wt Allele

Preferred Label : HSD17B4 wt Allele;

NCIt synonyms : MFE-2; DBP; EDH17B4; SDR8C1; PRLTS1; MPF-2; Hydroxysteroid (17-Beta) Dehydrogenase 4 wt Allele;

NCIt definition : Human HSD17B4 wild-type allele is located in the vicinity of 5q21 and is approximately 185 kb in length. This allele, which encodes peroxisomal multifunctional enzyme type 2 protein, plays a role in the oxidation of fatty acids. Mutation of the gene is associated with D-bifunctional protein deficiency and Perrault syndrome 1.;

GenBank Accession Number : NM_000414;

Details

Origin ID

C114365;

UMLS CUI

C3813197;

Automatic exact mappings (from CISMeF team)
- D-box-binding par bzip transcription factor [OMIM gene]
- Group-specific component [OMIM Phenotype]
- Group-specific component [OMIM gene]
- Perrault syndrome 1 [OMIM Phenotype]
- biliopancreatic diversion [MeSH Descriptor]
- bronchopulmonary dysplasia [MeSH Descriptor]
- hydroxysteroid 17-beta dehydrogenase 4 [ORDO Gene]
OMIM relation
- 17-beta-hydroxysteroid dehydrogenase iv [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q21 [NCIt concept]
gene_is_element_in_pathway
- Bile Acid Biosynthesis Pathway [NCIt concept]
- Peroxisome Biogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- Fatty Acid Metabolism [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Steroid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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