ABclonal Technology SMN1 Rabbit pAb

Supplier:  ABclonal Technology A16246500UL

This gene is part of a 500 kb inverted duplication on chromosome 5q13, containing at least four genes and repetitive elements, making it prone to rearrangements and deletions. The telomeric and centromeric copies are nearly identical, encoding the same protein, but mutations in the telomeric copy are linked to spinal muscular atrophy, while mutations in the centromeric copy do not cause disease. The centromeric copy may modify disease severity. A key difference between the two copies is a single nucleotide in exon 7, affecting splice enhancement. Both copies contain nine exons, designated historically as exon 1, 2a, 2b, and 3-8. Gene conversion events may alter copy numbers. The protein encoded by this gene localizes to the cytoplasm and nucleus, specifically to subnuclear gems near coiled bodies. It forms complexes with proteins like SIP1 and GEMIN4 and interacts with proteins involved in snRNP biogenesis. Multiple isoforms exist.

Catalog No. 50-001-09902