Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
S Kour, DS Rajan, TR Fortuna, EN Anderson… - Nature …, 2021 - nature.com
GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron
(SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins
(snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected
individuals from 22 unrelated families presenting with developmental delay, hypotonia, and
cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5
perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its …
(SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins
(snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected
individuals from 22 unrelated families presenting with developmental delay, hypotonia, and
cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5
perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its …
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