NHLRC2

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

Full Name

NHL Repeat Containing 2

Function

Required for normal embryonic development.

Cellular Location

Cytoplasm, cytosol

Involvement in disease

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.