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BSCL2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BSCL2 gene

The BSCL2 gene provides instructions for making the protein seipin, which is essential for fat storage and nerve cell health; mutations in this gene are linked to lipodystrophy and various neurological disorders.

Normal Function

The BSCL2 gene provides instructions for making a protein called seipin. Seipin is located in the membrane of the endoplasmic reticulum, a cell structure that modifies and transports proteins and fats. Seipin plays a critical role in the development and function of adipocytes (fat cells), specifically in the formation of lipid droplets that store fat molecules.

Health Conditions Related to Genetic Changes

Congenital generalized lipodystrophy

Variants in the BSCL2 gene can cause congenital generalized lipodystrophy type 2. This condition is characterized by an almost total absence of adipose tissue, leading to:

  • Hypertriglyceridemia (high levels of triglycerides in the blood)
  • Diabetes mellitus
  • Potential mild to moderate intellectual disabilities

Distal hereditary motor neuropathy, type V

Variants in BSCL2 can cause this disorder, which affects motor neurons and results in muscle weakness in the hands and feet. The altered seipin proteins accumulate in the endoplasmic reticulum, damaging motor neurons.

Silver syndrome

This condition is characterized by muscle weakness and wasting in the hands and spasticity in the legs. It is caused by the accumulation of altered seipin proteins, leading to motor neuron damage and death.

Other disorders

  • Charcot-Marie-Tooth disease: A neurological disorder associated with BSCL2 variants.
  • Progressive encephalopathy with or without lipodystrophy: A rare, severe condition characterized by abnormal brain function and intellectual disabilities, typically resulting in early childhood mortality due to the formation of toxic protein aggregates in neurons.

Other Names for This Gene

  • Berardinelli-Seip congenital lipodystrophy 2 (seipin)
  • BSCL2_HUMAN
  • GNG3LG
  • seipin
  • SPG17

Frequently Asked Questions

Management focuses on strict dietary control to prevent life-threatening complications. Patients must adhere to a low-fat, low-sugar diet to manage hypertriglyceridemia and insulin resistance. Regular physical activity is essential to improve insulin sensitivity and maintain muscle mass. Because standard diabetes medications may be less effective due to the lack of fat tissue, clinicians often prescribe specific agents like metformin or thiazolidinediones, and in some cases, insulin. Monitoring for liver health is also a daily priority, as fatty liver disease is a major risk.
Congenital generalized lipodystrophy type 2 is inherited in an autosomal recessive pattern. This means a person must inherit two mutated copies of the BSCL2 gene, one from each parent, to have the condition. Parents who are carriers typically do not show signs or symptoms of the disease. If two carriers have a child, there is a 25% chance the child will be affected, a 50% chance the child will be a carrier, and a 25% chance the child will inherit two normal copies. Genetic counseling is recommended for families with a history of the condition to assess risks for future pregnancies.
Diagnosis usually begins with a physical examination noting the absence of body fat, which is often apparent at birth or in early infancy. Confirmatory testing involves genetic sequencing to identify pathogenic variants in the BSCL2 gene. Clinicians also order lipid panels to check for severe hypertriglyceridemia and metabolic panels to assess glucose levels, as insulin resistance and diabetes often develop early. Liver function tests are also critical because the lack of fat storage leads to fatty liver disease, which can progress to cirrhosis if not managed.
Yes, BSCL2 mutations can cause neurological issues distinct from metabolic problems. In some patients, particularly those with specific variants, the altered seipin protein accumulates in the endoplasmic reticulum of nerve cells, leading to distal hereditary motor neuropathy or Silver syndrome. These conditions present as progressive muscle weakness and wasting in the hands and feet, or spasticity in the legs. Unlike the metabolic symptoms which are managed through diet and medication, these neurological symptoms require physical therapy and occupational therapy to maintain mobility and function.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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