GeneID: 493
Names
Common Name: | ZPR1 | Type: | Gene |
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Chromosome: | 11 (NC_000011.10) | Locus: | NM_003904.5 (ZPR1) |
HUGO Symbol: | ZPR1 | Full Name: | ZPR1 zinc finger |
Exons: | 14 | Introns: | 13 |
Description:
ZPR1 is a zinc finger protein, also called ZNF259, required for cellular replication and viability. It has many functions and is best known for assembling into multiprotein complexes with survival motor neuron (SMN) protein as a part of RNA splicing. It has been associated with modulation of serum lipid levels in certain populations. In fact, high plasma triglyceride levels and reduced high density lipoprotein (HDL-C) are common among some patients with sickle cell disease (SCD) and may contribute to hemolysis and endothelial dysfunction sub-phenotypes of disease. Sequence variation in this gene associated with serum lipid levels in patients with SCD.
Synonyms: GKAF , ZNF259
Comments:
N/A
Number of entries/variants: 1
IthaScore
Publications / Origin
- Valente-Frossard TNS, Cruz NRC, Ferreira FO, Belisario AR, Pereira BM, Gomides AFF, Resende GAD, Carlos AM, Moraes-Souza H, Velloso-Rodrigues C, Polymorphisms in genes that affect the variation of lipid levels in a Brazilian pediatric population with sickle cell disease: rs662799 APOA5 and rs964184 ZPR1., Blood Cells Mol Dis, 80(0), 102376, 2020
A/A | Date | Curator(s) | Comments |
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1 | 2022-05-09 17:34:52 | The IthaGenes Curation Team | Created |