DHRS7B

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Description

The DHRS7B (dehydrogenase/reductase 7B) is a protein-coding gene located on chromosome 17.

The DHRS7B gene encodes a protein predicted to be involved in steroid hormone regulation. It is located on chromosome 17p11.2, spanning from position 21030258 to 21094836. The gene has seven exons and no predicted alternative splice forms, resulting in an 1841 bp mRNA product. DHRS7B is highly expressed in testes, thyroid, kidneys, and adipose tissues, with moderate expression in the brain, pancreas, mammary glands, and ovaries. Deletion in the 17p11.2 region is associated with Smith-Magenis Syndrome, a developmental disorder.

DHRS7B is also known as CGI-93, SDR32C1.

Associated Diseases

• isolated asymptomatic elevation of creatine phosphokinase
• hypertriglyceridemia 2
• cholesterol-ester transfer protein deficiency
• pentosuria
• thyroid hormone metabolism, abnormal, 2
• sitosterolemia
• myopathy due to calsequestrin and SERCA1 protein overload
• homozygous familial hypercholesterolemia
• metabolic myopathy due to lactate transporter defect
• chronic intestinal pseudoobstruction
• hypercholesterolemia, autosomal dominant, 3
• hyperlipidemia due to hepatic triglyceride lipase deficiency
• familial apolipoprotein C-II deficiency