Rat Anti-LRRC32 Recombinant Antibody (G14D9) (CBMAB-G1137-LY)

Name: Rat Anti-LRRC32 Recombinant Antibody (G14D9)
SKU: CBMAB-G1137-LY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Rat

Clone

G14D9

Application

Specificity

Human

Antibody Isotype

IgG2a, κ

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Buffer

0.1% gelatin, 0.2% BSA

Purity

> 95% Purity determined by SDS-PAGE.

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

More Infomation

Target

Full Name

leucine rich repeat containing 32

Introduction

This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies.

Entrez Gene ID

2615

UniProt ID

Q14392

Alternative Names

D11S833E; GARP

Function

Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:19750484, PubMed:19651619, PubMed:22278742).
Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:22278742).
Able to outcompete LTBP1 for binding to LAP regulatory chain of TGF-beta (PubMed:22278742).
Controls activation of TGF-beta-1 (TGFB1) on the surface of activated regulatory T-cells (Tregs) (PubMed:19750484, PubMed:19651619).
Required for epithelial fusion during palate development by regulating activation of TGF-beta-3 (TGFB3) (By similarity).

Biological Process

Negative regulation of activated T cell proliferationIEA:Ensembl
Negative regulation of cytokine productionIEA:Ensembl
Positive regulation of gene expressionIEA:Ensembl
Regulation of transforming growth factor beta activationManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of transforming growth factor beta3 activationIEA:Ensembl
Secondary palate developmentISS:UniProtKB
Transforming growth factor beta receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Cell membrane
Cell surface

Involvement in disease

Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD):
An autosomal recessive disorder characterized by mild to severe intellectual disability with delayed or absent speech, hypotonia, cleft palate, proliferative retinopathy, and combined sensorineural and conductive hearing loss. Brain imaging shows ventriculomegaly, widened subarachnoid spaces, partial agenesis of the corpus callosum, hypoplastic cerebellar vermis, and Dandy Walker malformation.

Topology

Extracellular: 20-627
Helical: 628-648
Cytoplasmic: 649-662

Li, Y. K., Wang, H. Y., Chen, Y., Shi, X. Q., Zhang, X. X., Li, K., ... & Sun, C. (2023). Single‑nucleotide polymorphism rs6592645 confers asthma risk through regulating LRRC32 expression. Experimental and Therapeutic Medicine, 26(3), 1-9.

Hexner-Erlichman, Z., Fichtman, B., Zehavi, Y., Khayat, M., Jabaly-Habib, H., Izhaki-Tavor, L. S., ... & Spiegel, R. (2022). A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay. Frontiers in Pediatrics, 10, 859034.

Lehmkuhl, P., Gentz, M., Garcia de Otezya, A. C., Grimbacher, B., Schulze-Koops, H., & Skapenko, A. (2021). Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32. Cellular & molecular immunology, 18(7), 1677-1691.

Chen, J., Chen, Q., Wu, C., & Jin, Y. (2020). Genetic variants of the C11orf30-LRRC32 region are associated with childhood asthma in the Chinese population. Allergologia et Immunopathologia, 48(4), 390-394.

Hennighausen, L., & Lee, H. K. (2020). The transcription factor STAT5 binds to distinct super-enhancer sites and controls Lrrc32 expression in a prominent autoimmune and allergic disease risk locus. bioRxiv, 2020-06.

Harel, T., Levy-Lahad, E., Daana, M., Mechoulam, H., Horowitz-Cederboim, S., Gur, M., ... & Elpeleg, O. (2019). Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay. European Journal of Human Genetics, 27(8), 1315-1319.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

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Isotype control

For research use only. Not intended for any clinical use.

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