PNPLA1 Antibody

Code: CSB-PA843295LA01HU

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US$83

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Species Reactivity: Human, Mouse

Raised in: Rabbit

Application: ELISA, WB, IHC, IF

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Product Details
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Target Background

Product Details

Uniprot NO.

Q8N8W4

Target Names

PNPLA1

Alternative Names

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

Raised in

Rabbit

Species Reactivity

Human, Mouse

Immunogen

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

Immunogen Species

Homo sapiens (Human)

Conjugate

Non-conjugated

Isotype

IgG

Purification Method

>95%, Protein G purified

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4

Tested Applications

ELISA, WB, IHC, IF

Recommended Dilution

Application	Recommended Dilution
WB	1:1000-1:5000
IHC	1:20-1:200
IF	1:50-1:200

Storage

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

Lead Time

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.
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.

Usage

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

Datasheet & COA

Antibody FAQs

Images

Western Blot
All lanes: PNPLA1 antibody at 12μg/ml
Lane 1: Mouse spleen tissue
Lane 2: Mouse skeletal muscle tissue
Secondary
Goat polyclonal to rabbit IgG at 1/10000 dilution
Predicted band size: 58, 48, 49 kDa
Observed band size: 58 kDa
Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA843295LA01HU at dilution of 1:100
Immunofluorescent analysis of HepG2 cells using CSB-PA843295LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
Immunofluorescent analysis of MCF-7 cells using CSB-PA843295LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)

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Target Background

Function(From Uniprot)

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).

Gene References into Functions

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
PNPLA1 catalyses the omega-O-esterification with linoleic acid to form acylceramides. PMID:28248300
PNPLA1 is directly involved in acylceramide synthesis as a transacylase. PMID:28248318
The PNPLA1 mutations reportedhere show PNPLA1 to be an important, if relatively rare, cause of ARCI. PMID:28403545
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
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
analysis of distinct and previously unreported mutations in the PNPLA1 gene in nine extended consanguineous families with autosomal recessive congenital ichthyosis PMID:27884779
an essential role of PNPLA1 in the synthesis of omega-O-AcylCers in human and murine skin. PMID:27751867
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
Letter: novel missense PNPLA1 variant causing autosomal recessive congenital ichthyosis in a Pakistani family. PMID:26778108
Results show that PNPLA1 missense mutations observed in this European family affect the patanin-like domain PMID:24344921
These results identified hPNPLA1 and a mutant in HeLa cells. PMID:24057234
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
PNPLA1 exhibited a modest effect on obesity PMID:19390624
Observational study of gene-disease association. (HuGE Navigator) PMID:19390624
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID:18414634

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Subcellular Location

Cytoplasm.

Tissue Specificity

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

Database Links

HGNC: 21246

UNIGENE: Hs.407002

KEGG: hsa:285848

STRING: 9606.ENSP00000378072

OMIM: 612121

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