AMMECR1L Human

AMMECR1-Like Human Recombinant
Cat. No.
BT23904
Source
E.coli.
Synonyms
AMMECR1-like protein, AMMECR1L, AMMECR1-Like.
Appearance
Sterile Filtered colorless solution.
Purity
Greater than 90% as determined by SDS-PAGE.
Usage
THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.
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Description

AMMECR1L Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 333 amino acids (1-310) and having a molecular mass of 36.9 kDa.
AMMECR1L is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Product Specs

Introduction
AMMECR1-Like, also called AMMECR1L, is a protein-coding gene. This gene contains an AMMECR1 domain.
Description
Recombinant human AMMECR1L protein was produced in E. coli. It is a single, non-glycosylated polypeptide chain that contains 333 amino acids (amino acids 1-310) and has a molecular weight of 36.9 kDa. A 23 amino acid His-tag is fused to the N-terminus of AMMECR1L. The protein was purified using proprietary chromatographic techniques.
Physical Appearance
A sterile, colorless, and clear solution.
Formulation
The AMMECR1L solution has a concentration of 0.5 mg/ml. It contains 20 mM Tris-HCl buffer with a pH of 8.0, 0.15 M NaCl, 10% glycerol, and 1 mM DTT.
Stability
For short-term storage (2-4 weeks), keep the solution refrigerated at 4°C. For longer storage, freeze the solution at -20°C. Adding a carrier protein such as 0.1% HSA or BSA is recommended for extended storage. Avoid repeatedly freezing and thawing the product.
Purity
Purity is greater than 90% as determined by SDS-PAGE.
Synonyms
AMMECR1-like protein, AMMECR1L, AMMECR1-Like.
Source
E.coli.
Amino Acid Sequence
MGSSHHHHHH SSGLVPRGSH MGSMGKRRCV PPLEPKLAAG CCGVKKPKLS GSGTHSHGNQ STTVPGSSSG PLQNHQHVDS SSGRENVSDL TLGPGNSPIT RMNPASGALS PLPRPNGTAN TTKNLVVTAE MCCYCFDVLY CHLYGFPQPR LPRFTNDPYP LFVTWKTGRD KRLRGCIGTF SAMNLHSGLR EYTLTSALKD SRFPPLTREE LPKLFCSVSL LTNFEDASDY LDWEVGVHGI RIEFINEKGV KRTATYLPEV AKEQDWDQIQ TIDSLLRKGG FKAPITSEFR KTIKLTRYRS EKVTISYAEY IASRQHCFQN GTLHAPPLYN HYS.

Product Science Overview

Introduction

AMMECR1-Like (AMMECR1L) is a protein that shares significant homology with the AMMECR1 protein. The AMMECR1 gene is located on the X chromosome (Xq22.3) and is associated with a contiguous gene deletion syndrome known as AMME syndrome, which includes Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis . The AMMECR1L protein is a recombinant form of the human AMMECR1 protein, engineered for research and therapeutic purposes.

Gene and Protein Structure

The AMMECR1 gene encodes a protein that is highly conserved across various species, indicating its fundamental role in cellular processes . The protein consists of two distinct subdomains:

  • Large Subdomain: Contains both the N- and C-terminal regions, comprising five alpha-helices and five beta-strands that form an antiparallel beta-sheet.
  • Small Subdomain: Comprises four alpha-helices and three beta-strands, also forming an antiparallel beta-sheet .

The conserved ‘LRGCIG’ motif within the AMMECR1 domain is crucial for its function and is located at beta (2) and its N-terminal loop .

Function and Significance

The exact function of AMMECR1 and its homolog AMMECR1L remains largely unknown. However, the high level of conservation suggests a basic cellular function, potentially in transcription, replication, repair, or translation machinery . The protein’s nuclear location further supports its involvement in essential cellular processes.

Clinical Relevance

Mutations or deletions in the AMMECR1 gene are linked to AMME syndrome, characterized by a combination of Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis . The recombinant form, AMMECR1L, is used in research to better understand the protein’s function and its role in these conditions.

Research and Applications

AMMECR1L (Human Recombinant) is utilized in various research applications, including:

  • Protein-Protein Interaction Studies: To identify potential interacting partners and elucidate the protein’s role in cellular pathways.
  • Functional Assays: To determine the biological activity of the protein and its impact on cellular processes.
  • Therapeutic Research: To explore potential therapeutic interventions for conditions associated with AMMECR1 mutations .

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