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SERPINA6

Domain

Proteolytic cleavage leads to an important conformation change. This reduces the affinity for steroids.

Function

Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.

Involvement in disease

Corticosteroid-binding globulin deficiency

CBG deficiency

Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

N-glycosylated; binds 5 oligosaccharide chains.

Glycosylation in position Asn-260 is needed for steroid binding.

Sequence Similarities

Belongs to the serpin family.

Tissue Specificity

Plasma; synthesized in liver. Has also been identified in a number of glycocorticoid responsive cells.

Cellular localization

Alternative names

CBG, SERPINA6, Corticosteroid-binding globulin, Serpin A6, Transcortin

swissprot:P08185 omim:122500 entrezGene:866