NHLRC2

NHLRC2 (NHL Repeat Containing 2) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+.

NHL Repeat Containing 2

Required for normal embryonic development.

Cytoplasm, cytosol

Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA):
An autosomal recessive, early-onset and fatal disorder clinically characterized by progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and transient liver dysfunction. Death occurs in the first years of life due to respiratory failure. Post-mortem neuropathological examination reveals increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma-like lesions are observed in the lungs. Hepatomegaly, steatosis and collagen accumulation are detected in the liver.