HPCAL1, hippocalcin like 1, 3241

N. diseases: 16; N. variants: 3
Disease: Congenital central hypoventilation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.010 GeneticVariation disease BEFREE We demonstrate that both WT PHOX2B and the neuroblastoma-associated R100L missense and the CCHS-associated alanine expansion variants induce nuclear translocation of HPCAL1 in a Ca(2+)-independent manner, while the neuroblastoma-associated 676delG frameshift and K155X truncation mutants impair subcellular localization of HPCAL1, causing it to remain in the cytoplasm. 23873030 2014