TMEM67

Description

The TMEM67 gene encodes a transmembrane protein with a crucial role in cellular processes, including protein trafficking and membrane integrity. Its involvement in various cellular pathways highlights its importance in maintaining normal cell function. Mutations in TMEM67 have been linked to several inherited disorders, emphasizing the significance of this gene in human health.

Associated Diseases

• Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
• Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
• Hereditary Spastic Paraplegia (HSP)
• Intellectual Disability

Did you know?

TMEM67 is highly conserved across different species, suggesting its vital role in cellular function.