Disease-gene associations mined from literature

Literature associating PTPRN and Wissler-Fanconi syndrome

PTPRN [ENSP00000295718]

Receptor-type tyrosine-protein phosphatase-like N; Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets (By similarity). Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain (By similarity). In females, but not in males, required for normal accumulation and secretion of pituitary hormones, such as luteinizing hormone (LH) and follicle- stimulating hormone (FSH) (By similarity). Required to maintain normal levels of renin expression and renin release (By similarity). Seems to lack intrinsic enzyme activity (By similarity). May regulate catalytic active protein-tyrosine phosphatases such as PTPRA through dimerization (By similarity); Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily.

Synonyms:  PTPRN,  C9J392,  C9JCQ0,  C9JJL7,  C9JK57 ...

Linkouts:  STRING  Pharos  UniProt  OMIM