rs144966144
This variant is located in the ZPR1 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout ZPR1
The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
View all ZPR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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