SERPINA7 - serpin family A member 7 Gene
Also Known as TBG; TBGQTL
Species: Homo sapiens
About SERPINA7
This gene has 3 transcripts (splice variants), 92 orthologues, 36 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 70.5).
Summary
There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid Hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the Serpin family in genomics, but the protein has no inhibitory function like many Other members of the Serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012]
SERPINA7 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000354.6 | NP_000345.2 | thyroxine-binding globulin precursor |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in thyroid hormone transport |
IMP
IMP: Inferred from mutant phenotype
|
19415532 | GOA |
SERPINA7 Protein Structure
Serpin: Serpin (serine protease inhibitor) (46 - 412)
- 0
- 100
- 200
- 300
- 415 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
thyroxine-binding globulin |
|
Recombinant SERPINA7 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71079 | Serpin A7 Protein, Human (HEK293, His) | P05543 (A21-A415) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Thyroxine-Binding Globulin Quantitative Trait Locus |
|
|
| Hyperthyroxinemia |
|
|
| Euthyroid Sick Syndrome |
|
|
| Hyperthyroidism |
|
|
| Hypothyroidism |
|
|
| Goiter |
|
|
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
|
| Placental Abruption |
|
|
| Graves' Disease |
|
|
| Congenital Disorder Of Glycosylation, Type Ia |
|
|
| Thyroid Crisis |
|
|
| Turner Syndrome |
|
|
| Graves Disease 1 |
|
|
| Congenital Hypothyroidism |
|
|
| Endemic Goiter |
|
|
| Thyroiditis |
|
|
| Acute Thyroiditis |
|
|
| Corticosteroid-Binding Globulin Deficiency |
|
|
| Polyneuropathy |
|
|
| Thyroid Gland Disease |
|
|
| Thyroid Hormone Resistance, Selective Pituitary |
|
|
| Hashimoto Thyroiditis |
|
|
| Plummer'S Disease |
|
|
| Subacute Thyroiditis |
|
|
| Abnormality Of Glucagon Secretion |
|
|
| Wild-Type Amyloidosis |
|
|
| Nontoxic Goiter |
|
|
| Myxedema |
|
|
| Allan-Herndon-Dudley Syndrome |
|
|
| Familial Thyroid Dyshormonogenesis |
|
|
| Estrogen Excess |
|
|
| Ichthyosis |
|
|
| Sleeping Sickness |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | SERPINA7 | MGD | MGI:3041197 |
| Canis familiaris | SERPINA7 | VGNC | VGNC:46026 |
| Rattus norvegicus | SERPINA7 | RGD | RGD:619833 |
| Bos taurus | SERPINA7 | VGNC | VGNC:34469 |
| Felis catus | SERPINA7 | VGNC | VGNC:65024 |
| Macaca mulatta | SERPINA7 | VGNC | VGNC:77221 |
| Others | SERPINA7 | NCBI |