Survival Of Motor Neuron 1, Telomeric (SMN1)

BCD541; SMA1; SMA2; SMA3; SMA4; SMNT; T-BCD541; SMNC; Gemin-1; Component of gems 1; Spinal Muscular Atrophy(Werdnig-Hoffmann Disease,Kugelberg-Welander Disease)

SPN	U589
HGNC	11117
MGI	109257
PubMed	15580564
RGD	620755
UniProt	Q16637
Wiki	SMN1

Survival motor neuron protein is a protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants are produced by this gene.This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. .

Reference

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