Article
A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018
Lyons Jonathan J, Stotz Stephanie C, Chovanec Jack, Liu Yihui, Lewis Katie L, Nelson Celeste, DiMaggio Thomas, Jones Nina, Stone Kelly D, Sung Heejong, Biesecker Leslie G, Colicos Michael A, Milner Joshua D
Abstract excerpt
PurposeCaV3.2 signaling contributes to nociception, pruritus, gastrointestinal motility, anxiety, and blood pressure homeostasis. This calcium channel, encoded by CACNA1H, overlaps the human tryptase locus, wherein increased TPSAB1 copy number causes hereditary α-tryptasemia. Germ-line CACNA1H variants may contribute to the variable expressivity observed with this genetic trait.MethodsTryptase-encoding sequences...
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