Microtubules are filamentous structures found throughout the cytoplasm of eukaryotic cells. They are polymers of tubulin that are involved in maintaining the structure of the cell as well as the internal structures of cilia and flagella. Microtubules are also essential in several key cellular processes such as cell division and intracellular transport.
The MAP7D3 gene encodes a protein believed to promote the assembly and stability of microtubules. Through its two N-terminal coiled-coil motifs, the MAP7D3 protein supports the polymerization of tubulin into microtubules, stabilizes microtubules against dissociation and protects cells from microtubule polymerization.
The MAP7D3 gene is located on the long arm of the X chromosome. It spans a length of 43 kb of DNA and its coding sequence is spread across 22 exons. The protein encoded by this gene has a molecular mass of 98.4 kDa and consists of 876 amino acids. Several additional isoforms of the MAP7D3 protein exist due to alternatively spliced transcript variants. The gene is found to be expressed in the nervous system.
Monies et al. (2017) studied the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, an 8-year-old male, suffered from global developmental delay, ADHD, lack of speech and mild hepatosplenomegaly. Whole exome sequencing helped identify a hemizygous mutation (c.804_805insTA, p.D269_A270delinsX) in exon 7 of the patient’s MAP7D3 gene. This gene mutation was considered a candidate for pathogenicity due to several reasons: it was a novel truncating variant, the MAP7D3 gene is expressed in the brain and previous reports have suggested it plays a role in intellectual disability. The authors noted that further studies are required to confirm this association.
To contribute with your findings to the content of this record, please fill the CTGA Database Information Submission Form and email it, along with supportive documents, to firstname.lastname@example.org.