| Primary Identifier | MGI:105089 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 15488 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including 3-hydroxyacyl-CoA dehydratase activity; protein homodimerization activity; and steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Acts upstream of or within Sertoli cell development; fatty acid beta-oxidation; and very long-chain fatty acid metabolic process. Located in peroxisome. Is expressed in several structures, including brain; genitourinary system; hindlimb phalanx; integumental system; and jaw. Used to study D-bifunctional protein deficiency. Human ortholog(s) of this gene implicated in D-bifunctional protein deficiency; Perrault syndrome; and Stiff-Person syndrome. Orthologous to human HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4). PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities in fatty acid metabolism, retarded growth, abnormal bile salt composition, impaired coordination, demyelination and premature death. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
