GCSH Antibody

產品詳情

Uniprot No.：

P23434
基因名：

GCSH
別名：

GCSHGlycine cleavage system H protein antibody; mitochondrial antibody; Lipoic acid-containing protein antibody
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human GCSH
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

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

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IHC,IF
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunofluorescence (IF) 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.

功能：

The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST).
基因功能參考文獻：
1. Data indicate no mutation was found in glycine cleavage system protein-H (GCSH) and suggest that mutations in both glycine decarboxylase (GLDC) and aminomethyltransferase (AMT) are the main cause of glycine encephalopathy in Malaysian population. PMID: 25231368
2. There is no detectable glycine cleavage enzyme activity in human skin fibroblasts. PMID: 21539457
3. Heterozygous GCSH gene mutation in transient neonatal hyperglycinemia. PMID: 12402263
4. Genetic analysis showed a non-previously described mutation affecting a consensus splice site (IVS2-1G > C 3) in the AMT gene encoding the T protein of the glycine cleavage system. PMID: 19299230
相關疾病：

Non-ketotic hyperglycinemia (NKH)
亞細胞定位：

Mitochondrion.
蛋白家族：

GcvH family
數據庫鏈接：

HGNC: 4208

OMIM: 238330

KEGG: hsa:2653

STRING: 9606.ENSP00000319531

UniGene: Hs.546256