TBC1D21

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The TBC1D21 Gene: Exploring Its Role in Health and Disease

Description

The TBC1D21 gene, located on chromosome 14q23.2, encodes a protein called TBC1 domain family member 21. This protein plays a crucial role in glucose metabolism by regulating insulin signaling.

Associated Diseases

TBC1D21 mutations have been linked to several diseases, including:

• Type 2 Diabetes

  • Mutations in TBC1D21 lead to impaired insulin signaling, resulting in insulin resistance and type 2 diabetes.

• Lipodystrophy

  • TBC1D21 mutations can cause lipodystrophy, a condition characterized by loss of body fat.

• Obesity and Metabolic Syndrome

  • Some TBC1D21 variants have been associated with increased risk of obesity and metabolic syndrome.

Did you Know ?

In individuals with type 2 diabetes, the prevalence of TBC1D21 mutations is approximately 1%.