C49531Level 10
PTPRC wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human PTPRC wild-type allele is located in the vicinity of 1q31-q32 and is approximately 118 kb in length. This allele, which encodes receptor-type tyrosine-protein phosphatase C protein, plays a role in T-cell activation through the antigen receptor. Defects in the PTPRC gene are a cause of autosomal recessive severe combined immunodeficiency (SCID).
**Synonyms:** - B220 - CD45 - CD45R - GP180 - L-CA - LCA - LY5 - Protein Tyrosine Phosphatase, Receptor Type C wt Allele - Protein Tyrosine Phosphatase, Receptor Type, C Gene - T200
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Cross-system equivalences0
No cross-system equivalences mapped for this node.