PNPLA1 Antibody, Biotin conjugated

說明書

中文名稱：

PNPLA1兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA843295LD01HU
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) PNPLA1 Polyclonal antibody
Uniprot No.：

Q8N8W4
基因名：

PNPLA1
別名：

PNPLA1 antibody; Patatin-like phospholipase domain-containing protein 1 antibody; EC 3.1.1.- antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Patatin-like phospholipase domain-containing protein 1 protein (101-300AA)
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：

Omega-hydroxyceramide transacylase involved in the synthesis of omega-O-acylceramides (esterified omega-hydroxyacyl-sphingosine; EOS), which are extremely hydrophobic lipids involved in skin barrier formation. Catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramide. Omega-O-acylceramides, are required for the biogenesis of lipid lamellae in the stratum corneum and the formation of the cornified lipid envelope which are essential for the epidermis barrier function. These lipids also play a role in keratinocyte differentiation. May also act on omega-hydroxylated ultra-long chain fatty acids (omega-OH ULCFA) and acylglucosylceramides (GlcEOS).
基因功能參考文獻：
1. We report two novel PNPLA1 mutations including one novel missense mutation c.335C > A (p.Ser112Tyr) and one novel deletion mutation c.733_735delTAC (p.Tyr245del) in Turkish autosomal recessive congenital ichthyosis patients from unrelated consanguineous families. PMID: 29624231
2. PNPLA1 catalyses the omega-O-esterification with linoleic acid to form acylceramides. PMID: 28248300
3. PNPLA1 is directly involved in acylceramide synthesis as a transacylase. PMID: 28248318
4. The PNPLA1 mutations reportedhere show PNPLA1 to be an important, if relatively rare, cause of ARCI. PMID: 28403545
5. The results show potential phenotypic variation in a small percentage of patients with PNPLA1 mutations. The variability of the clinical manifestations and the lack of typical clinical features are specific for patients with PNPLA1 mutations. PMID: 28093717
6. Data support that PNPLA1/Pnpla1 is a key player in the formation of omega-O-acylceramide, a crucial process for the epidermal permeability barrier function. PMID: 28369476
7. analysis of distinct and previously unreported mutations in the PNPLA1 gene in nine extended consanguineous families with autosomal recessive congenital ichthyosis PMID: 27884779
8. an essential role of PNPLA1 in the synthesis of omega-O-AcylCers in human and murine skin. PMID: 27751867
9. the variant identified will expand the spectrum of mutations in the PNPLA1 gene, provides more evidence for lack of genotype-phenotype correlation and clinical variability in PNPLA1 and underscores its role in causing autosomal recessive congenital ichthyosis PMID: 26691440
10. Letter: novel missense PNPLA1 variant causing autosomal recessive congenital ichthyosis in a Pakistani family. PMID: 26778108
11. Results show that PNPLA1 missense mutations observed in this European family affect the patanin-like domain PMID: 24344921
12. These results identified hPNPLA1 and a mutant in HeLa cells. PMID: 24057234
13. One missense and one nonsense mutation in the catalytic domain of human PNPLA1 were found in six individuals with autosomal recessive congenital ichthyoses from two families. PMID: 22246504
14. PNPLA1 exhibited a modest effect on obesity PMID: 19390624
15. Observational study of gene-disease association. (HuGE Navigator) PMID: 19390624
16. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 18414634
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相關疾病：

Ichthyosis, congenital, autosomal recessive 10 (ARCI10)
亞細胞定位：

Cytoplasm.
組織特異性：

Expressed in the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filament bundles, which is
數據庫鏈接：

HGNC: 21246

OMIM: 612121

KEGG: hsa:285848

STRING: 9606.ENSP00000378072

UniGene: Hs.407002

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