CHST14 Antibody, Biotin conjugated

說明書

中文名稱：

CHST14兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA839851LD01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) CHST14 Polyclonal antibody
Uniprot No.：

Q8NCH0
基因名：

CHST14
別名：

2600016L03Rik antibody; ATCS antibody; Carbohydrate (N acetylgalactosamine 4 0) sulfotransferase 14 antibody; Carbohydrate sulfotransferase 14 antibody; CHST14 antibody; CHSTE_HUMAN antibody; D4ST-1 antibody; D4st1 antibody; Dermatan 4-sulfotransferase 1 antibody; hD4ST1 antibody; RP23-286G12.2 antibody; UNQ1925/PRO4400 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Carbohydrate sulfotransferase 14 protein (70-133AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
應用范圍：

ELISA
Protocols：

ELISA Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. Appears to have an important role in the formation of the cerebellar neural network during postnatal brain development.
基因功能參考文獻：
1. Dermatan sulfate does not appear in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. PMID: 28238810
2. patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation of the pathophysiology in view of future etiology-based therapy are crucial PMID: 26646600
3. CHST14 gene mutations are associated with musculocontractural type of Ehlers-Danlos syndrome. PMID: 26373698
4. We report on the detailed clinical characterization of two sisters with musculocontractural Ehlers-Danlos syndrome caused by a homozygous mutation in the CHST14 gene. PMID: 22581468
5. Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome". PMID: 21309034
6. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. PMID: 20842734
7. A homozygous CHST14 (carbohydrate sulfotransferase 14) mutation in the two familial cases and compound heterozygous mutations in four sporadic cases of Ehlers-Danlos syndrome, were identified. PMID: 20533528
8. D4ST-1 is a key enzyme and is indispensable in the formation of important functional domains in dermatan sulfate and cannot be compensated by other 4-O-sulfotransferases PMID: 19661164
9. dermatan-4-sulfotransferase 1 has a role in adducted thumb-clubfoot syndrome PMID: 20004762
10. D4ST-1 is encoded by a single exon located on human chromosome 15q14; type II membrane protein of 376 amino acids with a 43-amino acid cytoplasmic domain and a 316-amino acid luminal domain containing two potential N-linked glycosylation sites PMID: 11470797
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相關疾病：

Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
亞細胞定位：

Golgi apparatus membrane; Single-pass type II membrane protein.
蛋白家族：

Sulfotransferase 2 family
組織特異性：

Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid.
數據庫鏈接：

HGNC: 24464

OMIM: 601776

KEGG: hsa:113189

STRING: 9606.ENSP00000307297

UniGene: Hs.442449

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