PTPRS Chromosome 19

Protein tyrosine phosphatase receptor type S
1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in PTPRS.

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 contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type|LAR protein receptor tyrosine phosphatase family"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000105426
Associated Conditions (1)
NK-cell enteropathy
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS140472977 Health Risk Likely pathogenic NK-cell enteropathy, NK-cell enteropathy
Sign Up to Analyze Your DNA Log In