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THPO thrombopoietin

Also known as: ML; TPO; MGDF; MKCSF; MPLLG; THCYT1

Summary

Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5' UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Essential thrombocythemia
MedGen: C0040028OMIM: 187950GeneReviews: Not available
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Genomic context

Location:
3q27.1
Sequence:
Chromosome: 3; NC_000003.12 (184371935..184379688, complement)
Total number of exons:
7

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