Rabbit Anti-Human ABHD5 (C-terminal) Polyclonal antibody

Name: Rabbit Anti-Human ABHD5 (C-terminal) Polyclonal antibody
SKU: DPABH-17509
Rating: 5 (1 reviews)

Rabbit Anti-Human ABHD5 (C-terminal) Polyclonal antibody for WB, IHC

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COA

SDS

Datasheet

Key features and details

Target: ABHD5
Host: Rabbit
Application: WB, IHC
Species Reactivity: Human

Summary

Specifications

Antibody Isotype

IgG

Species Reactivity

Human

Immunogen

Fusion protein corresponding to residues near the C terminal of human Abhydrolase domain containing 5

Conjugate

Unconjugated

Applications

Application Notes

WB: 1:200-1:1000
IHC: 1:15-1:50

General Notes

This product (Catalog No. DPABH-17509) is a rabbit-derived IgG polyclonal antibody raised against human ABHD5. It has been affinity purified by protein A. The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation.
DPABH-17509 is suitable for use in Western blot (WB) (1:200–1:1,000), IHC (1:15–1:50) applications.
DPABH-17509 is supplied as a liquid formulation in pH7.4 PBS, 0.05% sodium azide, 40% Glycerol. For long-term storage, keep at −20 °C. For short-term use, store at 2–8 °C. Avoid repeated freeze–thaw cycles to maintain antibody integrity and performance.

Target

Alternative Names

CDS; CGI58; IECN2; NCIE2

Entrez Gene ID

51099

UniProt ID

Q8WTS1

Citations

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Documents

pdf COA

pdf SDS

pdf Datasheet

QA & Reviews

Customer Reviews

References

Cerebral lipid accumulation in Chanarin-Dorfman Syndrome

MOLECULAR GENETICS AND METABOLISM

Authors: Huigen, Marleen C. D. G.; van der Graaf, Marinette; Morava, Eva; Dassel, A. Carin M.; van Steensel, Maurice A. M.; Seyger, Marieke M. B.; Wevers, Ron A.; Willemsen, Michel A.

Abstract

Chanarin-Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5 gene resulting in a deficiency of CGI-58 and in intracellular accumulation of triacylglycerol in skin and liver. Patients are mainly characterized by congenital ichthyosis, but the clinical phenotype is very heterogeneous. Distinct brain involvement has never been described. We present a clinical description of two patients with congenital ichthyosis. On suspicion of Sjogren-Larsson syndrome (SLS) single-voxel 1H-MR spectroscopy of the brain was performed and biochemical testing of fatty aldehyde dehydrogenase (FALDH) to establish this diagnosis gave normal results. Vacuolisation in a peripheral blood smear has led to the CDS suspicion. In both patients the diagnosis CDS was confirmed by ABHD5 mutation analysis. Interestingly, a clear lipid accumulation in the cerebral white matter, cortex and basal ganglia was demonstrated in both CDS-patients. These results demonstrate, for the first time, cerebral involvement in CDS and give new insights in the complex phenotype. Since the clinical implications of this abnormal cerebral lipid accumulation are still unknown, further studies are warranted. (C) 2014 Elsevier Inc. All rights reserved.

Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5

ACTA PAEDIATRICA

Authors: Cakir, M.; Bruno, C.; Cansu, A.; Cobanoglu, U.; Erduran, E.

Abstract

We described a Turkish girl with Chanarin-Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin-Dorfman syndrome such as ichthyosis, Jordan's anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed with a novel ABHD5 mutation. Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin-Dorfman syndrome. Cirrhosis has been reported in patients with long-duration disease. Conclusion: Local factors or dysfunction of local proteins such as mutations or polymorphisms in hepatic microsomal lipase and arylacetamide deacetylase may contribute the severity of liver involvement, and steatosis may progress to cirrhosis in the early infancy in Chanarin-Dorfman syndrome.