Recombinant Human Adenylosuccinate synthetase isozyme 1 (ADSSL1)

中文名稱：

Recombinant Human Adenylosuccinate synthetase isozyme 1(ADSSL1)
貨號：

CSB-YP836641HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Adenylosuccinate synthetase isozyme 1(ADSSL1)
貨號：

CSB-EP836641HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human Adenylosuccinate synthetase isozyme 1(ADSSL1)
貨號：

CSB-EP836641HU-B
說明書：

MSDS Datasheet
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：

Recombinant Human Adenylosuccinate synthetase isozyme 1(ADSSL1)
貨號：

CSB-BP836641HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Adenylosuccinate synthetase isozyme 1(ADSSL1)
貨號：

CSB-MP836641HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

ADSSL1
Uniprot No.：

Q8N142
別名：

ADSS1; ADSSL1; Adenylosuccinate synthetase isozyme 1; AMPSase 1; AdSS 1; EC 6.3.4.4; Adenylosuccinate synthetase; basic isozyme; Adenylosuccinate synthetase; muscle isozyme; M-type adenylosuccinate synthetase; Adenylosuccinate synthetase-like 1; AdSSL1; IMP--aspartate ligase 1
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-457
氨基酸序列

MSGTRASNDR PPGAGGVKRG RLQQEAAATG SRVTVVLGAQ WGDEGKGKVV DLLATDADII SRCQGGNNAG HTVVVDGKEY DFHLLPSGII NTKAVSFIGN GVVIHLPGLF EEAEKNEKKG LKDWEKRLII SDRAHLVFDF HQAVDGLQEV QRQAQEGKNI GTTKKGIGPT YSSKAARTGL RICDLLSDFD EFSSRFKNLA HQHQSMFPTL EIDIEGQLKR LKGFAERIRP MVRDGVYFMY EALHGPPKKI LVEGANAALL DIDFGTYPFV TSSNCTVGGV CTGLGIPPQN IGDVYGVVKA YTTRVGIGAF PTEQINEIGG LLQTRGHEWG VTTGRKRRCG WLDLMILRYA HMVNGFTALA LTKLDILDVL GEVKVGVSYK LNGKRIPYFP ANQEMLQKVE VEYETLPGWK ADTTGARRWE DLPPQAQNYI RFVENHVGVA VKWVGVGKSR ESMIQLF
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：

Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.
基因功能參考文獻：
1. Study investigated the clinical manifestation in Korean patients with ADSSL1 mutations. Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s. All patients had mild facial weakness and two patients complained of easy fatigue while eating and chewing. Muscle biopsies and whole body muscle MR imaging findings are discussed. PMID: 28268051
2. Mutations in ADSSL1 are the novel genetic cause of autosomal recessive adolescent onset distal myopathy. PMID: 26506222
3. A novel muscle isozyme of adenylosuccinate synthetase, human AdSSL1, is identified from human bone marrow stromal cells. PMID: 15786719
相關疾病：

Myopathy, distal, 5 (MPD5)
亞細胞定位：

Cytoplasm.
蛋白家族：

Adenylosuccinate synthetase family
組織特異性：

Predominantly expressed in skeletal muscle and heart, as well as in several hematopoietic cell lines and solid tumors.
數據庫鏈接：

HGNC: 20093

OMIM: 612498

KEGG: hsa:122622

STRING: 9606.ENSP00000333019

UniGene: Hs.592327