ELOVL4 : ELOVL fatty acid elongase 4

Description

The ELOVL4 gene encodes an enzyme called elongase of very long chain fatty acids-4, a crucial player in the synthesis of very long chain fatty acids (VLCFAs). These VLCFAs are essential components of various lipids, including myelin, a protective sheath around nerve fibers. ELOVL4 is primarily expressed in the brain and testes, highlighting its role in nervous system development and male fertility. Mutations in this gene can lead to various neurological disorders and reproductive issues.

Associated Diseases

• Spinocerebellar ataxia type 36 (SCA36)
• Spastic paraplegia type 35 (SPG35)
• Hereditary sensory and autonomic neuropathy type 1 (HSAN1)
• Male infertility

Did you know?

ELOVL4 is involved in the production of docosahexaenoic acid (DHA), an omega-3 fatty acid crucial for brain function and development.