ABclonal Technology SMN1 Rabbit mAb

Supplier:  ABclonal Technology A97071000UL

This gene is part of a 500 kb inverted duplication on chromosome 5q13, containing at least four genes and repetitive elements prone to rearrangements and deletions. The telomeric and centromeric copies are nearly identical and encode the same protein, but mutations in the telomeric copy are associated with spinal muscular atrophy, while mutations in the centromeric copy do not cause disease. The difference between the two genes is a single nucleotide in exon 7, affecting exon splicing. Gene conversion events may result in varying gene copy numbers. The protein encoded by this gene localizes to the cytoplasm and nucleus, particularly to subnuclear bodies called gems near coiled bodies. It forms complexes with proteins like SIP1 and GEMIN4 and interacts with proteins involved in snRNP biogenesis, such as hnRNP U and small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms exist.

Catalog No. 50-001-35546