background:
CNTNAP3B is a 1,288 amino acid protein that is encoded by a gene which maps to human chromosome 9. Chromosome 9 contains 145 million base pairs and comprises 4% of the human genome, encoding nearly 900 genes. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, and Familial dysautonomia, are both associated with chromosome 9. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in translocations that lead to the aberrant production of a BCR-ABL fusion protein often found in leukemias.
Function:
The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined.
Subcellular Location:
Isoform 1: Cell membrane; Single-pass type I membrane protein Isoform 2: Secreted
Similarity:
Belongs to the neurexin family.
Contains 2 EGF-like domains.
Contains 1 F5/8 type C domain.
Contains 1 fibrinogen SLCterminal domain.
Contains 4 laminin G-like domains.
Database links:
UniProtKB/Swiss-Prot: Q9BZ76.3
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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