The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found. [From RefSeq]
Khoury et al. (2019) described a young female patient with depressive symptoms and aggressive behaviour. She was found to carry a microduplication on the X chromosome, encompassing a 14 kb region. The authors speculated that the mutated gene could potentially be associated with at least part of the pateint's clinical presentation.
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.