SPTAN1

Description

The SPTAN1 (spectrin alpha, non-erythrocytic 1) is a protein-coding gene located on chromosome 9.

SPTAN1, also known as Alpha II-spectrin, is a protein expressed in various tissues, particularly in cardiac muscle, where it is found at Z-disc structures, costameres, and the sarcolemma membrane. Mutations in SPTAN1 have been linked to early infantile epileptic encephalopathy-5, and the protein may be a valuable biomarker for Guillain–Barré syndrome and infantile congenital heart disease. The protein exists in multiple splice variants, with four identified variants in cardiomyocytes. SPTAN1 is a member of the spectrin family of cytoskeletal proteins, which are involved in actin crosslinking, cell adhesion, intercellular communication, and cell cycle regulation. It is likely involved in organizing sub-sarcolemmal domains and stabilizing sarcolemmal membranes in cardiac muscle.

SPTAN1, also known as Fodrin, participates in secretion and interacts with calmodulin in a calcium-dependent manner. This interaction suggests that SPTAN1 may play a role in the calcium-dependent movement of the cytoskeleton at the cell membrane.

SPTAN1 is also known as DEE5, DEVEP, EIEE5, HMN11, HMND11, NEAS, SPG91, SPTA2.

Associated Diseases

• Epileptic encephalopathy, early infantile, 5
• Developmental delay with or without epilepsy
• Neuronopathy, distal hereditary motor, autosomal dominant 11
• Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
• Infantile spasms syndrome