ZPR1 Chromosome 11
ZPR1 zinc finger
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What This Gene Does
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]
Gene Info
Gene Group
Zinc fingers
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000109917
Associated Conditions (4)
Growth restriction
hypoplastic kidneys
alopecia
and distinctive facies
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368697578 | Health Risk | Pathogenic | Growth restriction, hypoplastic kidneys, alopecia |