The gene ptprc encodes a transmembrane receptor tyrosine phosphatase expressed in the brain, spinal cord, notochord, cranial ganglia, branchial arches, and pronephros during development; its expression...[+]

The gene ptprc encodes a transmembrane receptor tyrosine phosphatase expressed in the brain, spinal cord, notochord, cranial ganglia, branchial arches, and pronephros during development; its expression is also detected in circulating leukocytes and the thymus. The protein functions in neural tube patterning, myelination, and immune cell regulation through intracellular signaling pathways involving dephosphorylation. [-]

             severe combined immunodeficiency 104

          MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
          IMMUNODEFICIENCY 104, SEVERE COMBINED; IMD104

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD