Mouse Anti-OSTM1 (AA 183-282) Recombinant Antibody (4H1) (CBMAB-O0656-CQ)

Name: Mouse Anti-OSTM1 (AA 183-282) Recombinant Antibody (4H1)
SKU: CBMAB-O0656-CQ
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

Mouse

Clone

4H1

Application

ELISA, WB

Immunogen

OSTM1 (NP_054747.2, 183aa-282aa) partial Recombinant protein with GST tag

Specificity

Human

Antibody Isotype

IgG2a, Κ

Clonality

Monoclonal

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

PBS, pH 7.4

Storage

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

Epitope

AA 183-282

More Infomation

Target

Full Name

osteopetrosis associated transmembrane protein 1

Introduction

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis.

Entrez Gene ID

28962

UniProt ID

Q86WC4

Alternative Names

Osteopetrosis Associated Transmembrane Protein 1; Chloride Channel 7 Beta Subunit; CLCN7 Accessory Beta Subunit; GL; Osteopetrosis-Associated Transmembrane Protein 1; GAIP-Interacting Protein N Terminus

Function

Required for osteoclast and melanocyte maturation and function.

Biological Process

Osteoclast differentiationManual Assertion Based On ExperimentIBA:GO_Central
Transepithelial chloride transportManual Assertion Based On ExperimentIDA:ComplexPortal

Cellular Location

Lysosome membrane
Requires CLCN7 to travel to lysosomes.

Involvement in disease

Osteopetrosis, autosomal recessive 5 (OPTB5):
A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy.

Topology

Lumenal: 32-284
Helical: 285-305
Cytoplasmic: 306-334

PTM

Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein.
Highly N-glycosylated.

Alotaibi, Q., Dighe, M., & Aldaihani, S. (2023). The clinical features of OSTM1‐associated malignant infantile osteopetrosis: A retrospective, single‐center experience over one decade. American Journal of Medical Genetics Part A, 191(2), 459-468.

Vacher, J. (2022). OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration. Bone, 163, 116505.

Du, J., Xiao, J., Zhuo, Y., Nie, M., Yang, J., Luo, X., & Gu, H. (2022). LncRNA OSTM1-AS1 acts as an oncogenic factor in Wilms’ tumor by regulating the miR-514a-3p/MELK axis. Anti-Cancer Drugs, 33(8), 720-730.

Alotaibi, Q., & Dighe, M. (2021). Managing challenging pain and irritability in OSTM1 mutation-related infantile malignant osteopetrosis. BMJ Case Reports CP, 14(5), e242498.

Pata, M., Yousefi Behzadi, P., & Vacher, J. (2021). Expression pattern of the V5‐Ostm1 protein in bacterial artificial chromosome transgenic mice. genesis, 59(3), e23409.

Zhang, S., Liu, Y., Zhang, B., Zhou, J., Li, T., Liu, Z., ... & Yang, M. (2020). Molecular insights into the human CLC-7/Ostm1 transporter. Science Advances, 6(33), eabb4747.

Schrecker, M., Korobenko, J., & Hite, R. K. (2020). Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1. Elife, 9, e59555.

Vacher, J., Bruccoleri, M., & Pata, M. (2020). Ostm1 from mouse to human: Insights into osteoclast maturation. International Journal of Molecular Sciences, 21(16), 5600.

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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)
Proteogenomic
Other Protocols

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Isotype control

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

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