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GNA11  Antibody

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GNA11 Related Protein, Antibody, cDNA Gene, and ELISA Kits

GNA11 Related Protein, Antibody, cDNA Gene, and ELISA Kits

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GNA11 Summary & Protein Information

GNA11 Background

Subunit structure: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with RGS22. Interacts with NTSR1. {ECO:0000269|PubMed:18703424, ECO:0000269|PubMed:21725197}.
Subcellular location: Cell membrane {ECO:0000305|PubMed:18703424}; Lipid-anchor {ECO:0000305|PubMed:18703424}. Cytoplasm {ECO:0000269|PubMed:18703424}. Note=In testicular cells, expressed exclusively in the cytoplasm.
Tissue specificity: Expressed in testis. {ECO:0000269|PubMed:18703424}.
Involvement in disease: DISEASE: Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO:0000269|PubMed:23802516}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]: A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. {ECO:0000269|PubMed:23782177, ECO:0000269|PubMed:23802516}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarity: Belongs to the G-alpha family. G(q) subfamily. {ECO:0000305}.
General information above from UniProt

GNA11 Alternative Name

FBH,FBH2,FHH2,HHC2,GNA-11,HYPOC2, [homo-sapiens]
Dsk7,E430025L19, [mus-musculus]

GNA11 Related Studies

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