Down Syndrome Critical Region Gene 8 (DSCR8)

MMA1A and MMA1B transcripts in 20% of primary melanomas and in about 30% of melanoma metastasis, suggesting that expression emerges during malignant progression. PCR analysis also detected MMA1 in some tumor lesions of ileum, esophagus, and mammary gland, in several malignant melanoma cell lines, and in tumor cell lines of lung, liver, colon, and bladder.The full-length 91-amino acid MMA1A protein has a calculated molecular mass of 10 kD. It has 3 phosphorylation sites and 1 N-myristoylation site. The MMA1B transcript lacks exon 3 and encodes a deduced 37-amino acid protein that has a calculated molecular mass of 4 kD. MMA1B has a single phosphorylation site. RT-PCR analysis of 20 tissues detected both MMA1 transcripts in testis, but not in any other tissue examined. Nested PCR revealed low levels of MMA1A and/or MMA1B in some other tissues.