sedl-1 Antibody

Biological Context of SEDL

The SEDL gene (OMIM: 300202) encodes a 140-amino-acid protein involved in endoplasmic reticulum (ER)-to-Golgi vesicular transport. Mutations in SEDL disrupt protein trafficking, leading to skeletal dysplasia . Research antibodies targeting SEDL are critical for:

• Detecting SEDL protein expression in cellular models

• Studying pathogenic mutations in SEDT

• Investigating intracellular protein trafficking mechanisms

Key Antibody Characteristics

Research Findings

• Mutation Detection: Antibodies against SEDL have identified recurrent RNA-splicing mutations (e.g., IVS3-10_12del) in 71% of SEDT cases, confirming its X-linked inheritance .

• Cellular Localization: SEDL antibodies localize the protein to the ER-Golgi intermediate compartment, consistent with its role in vesicular transport .

• Functional Studies: Loss of SEDL disrupts collagen secretion in chondrocytes, contributing to skeletal defects .

Primer Sequences for SEDL Analysis

Cross-Species Reactivity

• SEDL antibodies exhibit cross-reactivity between murine and human orthologs due to 57% protein sequence homology .

• Validated in human epididymal tissue, sperm, and breast milk .

Related Antibodies and Potential Confounds

While "SEDL-1 Antibody" specifically targets the SEDL protein, similar nomenclature (e.g., "SEDI Antibody") may refer to unrelated targets:

Note: StressMarq’s SEDI Antibody (SPC-206) targets superoxide dismutase 1 (SOD1), not SEDL, and is used in amyotrophic lateral sclerosis (ALS) research .

Future Directions

Current gaps include therapeutic antibody development for SEDT and high-resolution structural studies of SEDL-antibody complexes. Advances in cryo-EM may elucidate how SEDL mutations alter protein interactions in skeletal dysplasia .