Recombinant Human Immunoglobulin superfamily member 1 (IGSF1), partial

中文名稱：

人IGSF1重組蛋白
貨號：

CSB-YP854051HU
規格：
來源：

Yeast
其他：

中文名稱：

人IGSF1重組蛋白
貨號：

CSB-EP854051HU
規格：
來源：

E.coli
其他：

中文名稱：

人IGSF1重組蛋白
貨號：

CSB-EP854051HU-B
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人IGSF1重組蛋白
貨號：

CSB-BP854051HU
規格：
來源：

Baculovirus
其他：

中文名稱：

人IGSF1重組蛋白
貨號：

CSB-MP854051HU
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

IGSF1
Uniprot No.：

Q8N6C5
別名：

IGSF1; IGDC1; KIAA0364; PGSF2; Immunoglobulin superfamily member 1; IgSF1; Immunoglobulin-like domain-containing protein 1; Inhibin-binding protein; InhBP; Pituitary gland-specific factor 2; p120
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

功能：

Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B. Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription.
基因功能參考文獻：
1. A novel mutation (c.2713C>T, p.Q905X) of the IGSF1 gene was identified that causes congenital central hypothyroidism in a Japanese family. The findings further expand the clinical heterogeneity of this entity. PMID: 27762734
2. We identified a novel insertion mutation in the IGSF1 gene and further delineated the phenotype of the IGSF1-deficiency syndrome. Our findings indicate a possible association between an IGSF1 mutation and neurological phenotypes. PMID: 27310681
3. Individuals with identical IGSF1 deletions can exhibit variable pituitary hormone deficiencies, of which overt TSH deficiency is the most consistent feature PMID: 27146357
4. IGSF1 Deficiency is associated with X-linked IGSF1 deficiency syndrome. PMID: 26840047
5. Adult male patients with IGSF1 deficiency exhibit mild deficits in attentional control on formal testing. PMID: 26387489
6. This case suggests that more attention should be paid to intrauterine growth and birth history when patients are suspected of having an IGSF1 mutation PMID: 26302767
7. There is insufficient evidence to conclude that the three observed VUCSs in IGSF1 are associated with CDGP, making it unlikely that IGSF1 mutations are a prevalent cause of CDGP. PMID: 25354429
8. Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue. PMID: 25527509
9. Data suggest male subjects with IGSF1 deficiency syndrome exhibit X-linked congenital/central hypothyroidism, delayed puberty, macro-orchidism, hypoprolactinemia, metabolic syndrome, and transient partial growth hormone deficiency. [CASE REPORTS] PMID: 24108313
10. Our findings provide additional genetic evidence that loss-of-function mutations in IGSF1 cause an X-linked form of C-CH and variable prolactin deficiency. PMID: 23966245
11. Using exome and candidate gene sequencing, 8 distinct mutations and 2 deletions in IGSF1 were identified in males from 11 unrelated families with central hypothyroidism, testicular enlargement and variably low prolactin concentrations. PMID: 23143598
12. IgSF1 is processed through sequential proteolysis by signal peptidase and signal peptide peptidase PMID: 18981173
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相關疾病：

Hypothyroidism, central, and testicular enlargement (CHTE)
亞細胞定位：

[Isoform 1]: Membrane; Multi-pass membrane protein.; [Isoform 2]: Membrane; Multi-pass membrane protein.; [Isoform 3]: Secreted.
組織特異性：

Highly expressed in pancreas, testis and fetal liver. Moderately expressed in heart, prostate and small intestine. Expressed at very low levels in brain, thymus, ovary, colon, fetal lung and fetal kidney. Expressed in muscle. Isoform 3 is expressed in pit
數據庫鏈接：

HGNC: 5948

OMIM: 300137

KEGG: hsa:3547

STRING: 9606.ENSP00000359940

UniGene: Hs.22111