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