DHRS1
Description
The DHRS1 (dehydrogenase/reductase 1) is a protein-coding gene located on chromosome 14.
DHRS1, also known as Short chain dehydrogenase/reductase family 19C member 1, is an enzyme encoded by the DHRS1 gene on chromosome 14. It is a 314-amino-acid protein located in the endoplasmic reticulum and mitochondrial inner membrane. DHRS1 has oxidoreductase activity, potentially involved in steroid and/or xenobiotic metabolism. It is expressed in the fetal brain and may interact with the protein phospholipid scrambase 1 (PLSCR1). The DHRS1 gene spans 9 exons and is located on chromosome 14q21.3.
DHRS1 is a NADPH-dependent oxidoreductase that catalyzes the reduction of various compounds, including steroids (estrone, androstene-3,17-dione, and cortisone), prostaglandin E1, isatin, and xenobiotics. This suggests that DHRS1 plays a role in steroid and/or xenobiotic metabolism.
DHRS1 is also known as SDR19C1.
Associated Diseases
- X-linked dystonia-parkinsonism
- spinocerebellar ataxia type 15/16
- X-linked parkinsonism-spasticity syndrome
- spinocerebellar ataxia type 20
- torsion dystonia 2
- isolated dystonia
- optic atrophy 2
- chorea, benign familial
- X-linked non progressive cerebellar ataxia
- tremor, hereditary essential, 6
- infantile-onset generalized dyskinesia with orofacial involvement
