Medical Knowledge Cockpit hypocalciuric hypercalcemia

GNA11

Somatic tumors

uveal melanoma, primary central nervous system melanocytic neoplasms

Tumor types germline

Cancer Syndrom

Translocation partner

Name

guanine nucleotide binding protein (G protein), alpha 11 (Gq class)

Chromosome banding

19p13.3

Cancer molecular gen.

Dom

Mutation type

Mis

Other syndrome disease

AP2S1

• Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2������q13.3

CASR

• [Calcium-sensing receptor in bone cells]
• The calcium-sensing receptor in human disease
• Naturally occurring mutations of the extracellular Ca2+-sensing receptor: implications for its structure and function
• Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene
• Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney

GNA11

• Evolution of the mammalian G protein alpha subunit multigene family