Glucosylceramidase beta (GBA) Rabbit pAb (APR28207N)

Product Specifications

Background

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants.

Synonyms

GBA; GBA1; GCB; GLUC

Gene ID

2629

UniProt

P04062

Cellular Locus

Lumenal side, Lysosome membrane, Peripheral membrane protein

Dilution

WB 1:500 - 1:2000

Form

Liquid

Buffer

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Molecular Weight

Calculated MW: 29kDa/50kDa/54kDa/57kDa/59kDa Observed MW: 60kDa

Storage Conditions

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

Overview

We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality Glucosylceramidase beta (GBA) Rabbit pAb (APR28207N) .

Gene ID URL

https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2629

Uniprot URL

https://www.uniprot.org/uniprot/P04062

AA Sequence

ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWAR