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SERPINA7 (Serpin family A member 7)

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Summary of SERPINA7

The gene codes for a protein, serpin family A member 7. Mutations may result in TGB deficiency [R].

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The Function of SERPINA7

Major thyroid hormone transport protein in serum.

Protein names

Recommended name:

Thyroxine-binding globulin

Alternative name(s):

Serpin A7
T4-binding globulin

SERPINA7 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1050086 (SERPINA7) ??
  2. RS1804495 (SERPINA7) ??
  3. RS2234036 (SERPINA7) ??

Top Gene-Substance Interactions

SERPINA7 Interacts with These Diseases

Disease Score

Substances That Increase SERPINA7

Substances Interaction Organism Category

Substances That Decrease SERPINA7

Substances Interaction Organism Category

Advanced Summary

     inherited thyroxine-binding globulin deficiency More than 25 mutations in the SERPINA7 gene have been identified in people with inherited thyroxine-binding globulin deficiency. Some mutations lead to a shortened, nonfunctional version of thyroxine-binding globulin. These genetic changes result in a total loss of the protein, which causes the complete form of inherited thyroxine-binding globulin deficiency (TBG-CD). Other mutations change single protein building blocks (amino acids) in thyroxine-binding globulin. These mutations alter the structure or processing of the protein, leading to the partial form of the disorder (TBG-PD). When there is a shortage of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced. These changes do not cause any problems with thyroid function. Although inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments. other disorders Other changes involving the SERPINA7 gene cause a condition called thyroxine-binding globulin excess (TBG-E). People with this condition have unusually high levels of thyroxine-binding globulin, often two to four times greater than normal. This excess is caused by the presence of one or more extra copies of the SERPINA7 gene in each cell. Like thyroxine-binding globulin deficiency, thyroxine-binding globulin excess does not cause any problems with thyroid function.

     The SERPINA7 gene (also known as TBG) provides instructions for making a protein called thyroxine-binding globulin. In the bloodstream, this protein carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Most of the time, thyroid hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • HNF-1A
  • HNF-1
  • C/EBPalpha
  • MEF-2A
  • GCNF

Tissue specificity:

Expressed by the liver and secreted in plasma.

Molecular Function:

  • Serine-Type Endopeptidase Inhibitor Activity

Biological Processes:

  • Thyroid Hormone Transport

Drug Bank:

  • Liothyronine
  • Liotrix
  • Levothyroxine
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

Alpha-1-antiproteinase 2| CB1_001279003| D623_10027674| GW7_09460| H920_03439| M91_07042| MDA_GLEAN10007075| N321_01446| PAL_GLEAN10003092| PANDA_020127| serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antipeptidase, antitrypsin), member 7| serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7| serine (or cysteine) proteinase inhibitor clade A (alpha-1 antiproteinase antitrypsin) member 7| serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7| serine (or cysteine) proteinase inhibitor, clade A, member 7| serpin A7| serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7| serpin peptidase inhibitor-like| T4-binding globulin| TBG| TBGQTL| thyroxin-binding globulin| thyroxine-binding globulin| TREES_T100019113| serpina7

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