The GEMIN7 gene encodes a protein that localizes to the cytoplasm as well as the gems of Cajal bodies in the nucleus. The GEMIN7 protein associates with SMN1 (Survival of Motor Neuron 1) and other proteins to form a large macromolecular SMN complex. This complex plays a key role in the post-transcriptional splicing of pre-mRNAs by helping assemble small nuclear ribonucleoproteins (snRNPs), which are complexes of RNA and Sm proteins that form the spliceosome. The SMN complex locates the inactive trapped Sm protein complex in the cytosol, dissociates it from the chaperone CLNS1A, and imports it to the nucleus for snRNP assembly.
The GEMIN7 gene is located on the long arm of chromosome 19 and spans a length of 15.7 kb of DNA. Its coding sequence is spread across 5 exons and it encodes a 14.5 kDa protein product consisting of 131 amino acids. The gene is found to be overexpressed in the bone and lung.
Monies et al. (2017) evaluated the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 4-year-old male, presented with gross motor delay, speech delay, hypotonia and abnormal movements. His parents were consanguineous and he had a family history of the phenotype. Using whole exome sequencing, a homozygous mutation (c.154G>A, p.E52K) was identified in exon 2 of the patient’s GEMIN7 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant located within the autozygome and was predicted to be deleterious; and the gene had been reported to be involved in motor neuron survival. The authors noted the need for independent confirmation of this association.
To contribute with your findings to the content of this record, please fill the CTGA Database Information Submission Form and email it, along with supportive documents, to email@example.com.