SMN1

The SMN1 gene encodes Survival Motor Neuron 1 protein, which serves as the basis for spinocerebellar ataxia type 1 (SCA1), a dominantly inherited disorder linked to chromosome 1. This gene is expressed in various mammals, including zebrafish, mice, hamsters, and humans, and is considered a critical transcription factor in tumorigenesis and cancer progression. Homozygous deletion of the SMN1 gene can lead to the development of disease in humans. Furthermore, SMN1 is located on chromosome 5 and shares significant similarity with the SMN2 gene, but they differ in their mRNA transcription products, determining their ultimate functional roles. SMN1 encodes the full-length SMN transcript (SMN-fl), a crucial protein with a molecular weight of 38kD and containing 294 amino acids. The SMN protein is widely distributed throughout the body, with the highest expression levels found in the brain, spinal cord, and muscles. This protein plays a vital role in maintaining the survival and function of motor neurons. When the SMN gene is deleted or mutated, abnormalities in the quantity, structure, and function of the SMN protein may occur. If the quantity of SMN protein falls below the minimum required for motor neuron function, motor neuron dysfunction can occur, potentially leading to related diseases.

Popular Product:

Recombinant Mouse Survival motor neuron protein (Smn1)

Validated Data

SDS

(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.