PTPRU Chromosome 1

Protein tyrosine phosphatase receptor type U
2 variants 2 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type"
Locus Type
gene with protein product
Location
1p35.3
Ensembl
ENSG00000060656
Associated Conditions (1)
Short stature
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS540351799 Health Risk Likely pathogenic Short stature, Short stature
RS559788899 Health Risk Likely pathogenic Short stature, Short stature
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