The MAMDC2 gene encodes a protein containing the MAM (mephrin, A5 antigen, protein tyrosine phosphatase mu) domain. It is found in the proteinaceous extracellular matrix as well as the endoplasmic reticulum. The human MAMDC2 protein is yet to be fully characterized and its function is currently unknown. However, mouse ortholog studies have found that the protein is involved in glycosaminoglycan binding.
The MAMDC2 gene is located on the long arm of chromosome 9 at position 9q21.12. It spans a length of 183.4 kb of DNA and its coding sequence is spread across 16 exons. The protein encoded by MAMDC2 has a molecular mass of 77.5 kDa and consists of 686 amino acids. Alternative splicing gives rise to a transcript variant that encodes an additional isoform of the MAMDC2 protein containing just 133 amino acids. The gene is found to be overexpressed in the fallopian tube, ovaries and amniocytes.
Anazi et al. (2016) analyzed a cohort of 337 Intellectual Disability (ID) patients to determine the effectiveness of genomic tools as a diagnostic test. In an 8-year old boy suffering from global developmental delay, autistic behavior and dysmorphia such as brachycephaly, microtia and hypertelorism, exome sequencing helped uncover a homozygous c.664T>C (p.Ser222Pro) mutation in the MAMDC2 gene. The amino acid change occurred in the 2nd MAM domain and was predicted to alter structural stability and affect ligand interactions.
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