OCA2 Antibodies

Structure of OCA2

The OCA2 gene encodes a transmembrane protein located on the melanosome membrane, with a molecular weight of approximately 110 kDa. The amino acid sequence of this protein shows certain differences among different species, which affects the specific mechanism by which it regulates the pH value of melanosomes and substrate transport.

This protein is composed of 838 amino acids, and its transmembrane domain forms an ion channel-like structure, which is responsible for regulating the pH environment within melanosomes. The core functional domain of the OCA2 protein contains a key substrate binding site, which affects the activity of tyrosinase through allosteric effects. Its N-glycosylation modification is crucial for the correct folding and membrane localization of proteins, while the leucine zipper motif at the C-terminal mediates the homologous dimerization process of proteins, which is indispensable for maintaining its transport function.

Fig. 1 AlphaFold2 Oca2 model.¹

Key structural properties of OCA2:

• Multiple transmembrane topological structures
• Form ion channels on the melanosome membrane
• With pH sensing and regulation function domain
• Leucine zipper motif mediates dimerization

Functions of OCA2

The core function of the OCA2 protein is to regulate the acid-base balance and substrate transport within melanosomes. However, it is also widely involved in various physiological processes such as pigment synthesis, embryonic development, and the formation of visual pathways.

The functional realization of this protein depends on its precise ion channel activity, which contrasts with the co-oxygen-binding characteristics of hemoglobin, demonstrating its dedicated role in maintaining the homeostasis of the organelle microenvironment.

Applications of OCA2 and OCA2 Antibody in Literature

1. Cho, Eunbyul, et al. "Modulating OCA2 Expression as a Promising Approach to Enhance Skin Brightness and Reduce Dark Spots." Biomolecules 14.10 (2024): 1284. https://doi.org/10.3390/biom14101284

This study confirmed that the OCA2 gene is an effective target for improving skin pigmentation. By screening active ingredients that can reduce OCA2 expression and developing corresponding formulas, clinical trials have shown that its effect in improving skin tone and fading pigmentation is superior to that of vitamin C, providing a new strategy for pigment management.

2. Clark, Bethan, et al. "Oca2 targeting using CRISPR/Cas9 in the Malawi cichlid Astatotilapia calliptera." Royal Society Open Science 9.4 (2022): 220077. https://doi.org/10.1098/rsos.220077

The research successfully applied CRISPR/Cas9 gene editing technology for the first time in Lake Malawi mackerel to target and knockout the oca2 gene. The results show that the deletion of this gene leads to a complete lack of melanin in the fish, which not only verifies the key role of oca2 in the formation of fish pigments, but also provides an important tool for studying the diversity and evolution of this species group.

3. Mesdaghi, Shahram, et al. "Structural insights into pink-eyed dilution protein (Oca2)." Bioscience Reports 43.7 (2023): BSR20230060. https://doi.org/10.1042/BSR20230060

This study utilized advanced technologies such as AlphaFold2 to precisely resolve the three-dimensional structure of the human OCA2 protein for the first time. The model reveals that it has the typical topological structure of a transporter protein, a GOLD domain responsible for intracellular transport, and suggests that it may perform substrate transport functions through an "elevator" mechanism, overturning previous understanding of its structure.

4. Green, David J., et al. "The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism." Nature Communications 15.1 (2024): 8436. https://doi.org/10.1038/s41467-024-52763-y

Research has found that individuals carrying A specific combination of TYR and OCA2 gene variations (OCA2:c.1327G>A) simultaneously with heterozygous have a significantly increased risk of developing albinism. This reveals the significant impact of inter-gene interactions on the manifestations of rare diseases such as albinism, providing a new perspective for understanding the complexity of diseases.

5. Caduff, Madleina, et al. "OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism." PLoS One 12.10 (2017): e0185944. https://doi.org/10.1371/journal.pone.0185944

In a family of German sharp-billed dogs, researchers discovered an abnormal coat color that causes the puppies to have light brown fur and blue eyes. Through genetic analysis, they confirmed that this trait was caused by a pathogenic mutation at the 5' end splicing site of the OCA2 gene and corrected the incorrect annotation of this gene in the canine reference genome.

Creative Biolabs: OCA2 Antibodies for Research

Creative Biolabs specializes in the production of high-quality OCA2 antibodies for research and industrial applications. Our portfolio includes monoclonal antibodies tailored for ELISA, Flow Cytometry, Western blot, immunohistochemistry, and other diagnostic methodologies.

• Custom OCA2 Antibody Development: Tailor-made solutions to meet specific research requirements.
• Bulk Production: Large-scale antibody manufacturing for industry partners.
• Technical Support: Expert consultation for protocol optimization and troubleshooting.
• Aliquoting Services: Conveniently sized aliquots for long-term storage and consistent experimental outcomes.

For more details on our OCA2 antibodies, custom preparations, or technical support, contact us at email.