Alternative titles; symbols
HGNC Approved Gene Symbol: MMP23A
Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,699,939-1,701,808 (from NCBI)
The matrix metalloproteinases are secreted glycoproteins that are involved in the remodeling of the extracellular matrix. By analysis of the genomic region surrounding the duplicated genes CDC2L1 (176873) and CDC2L2 (116951), Gururajan et al. (1998) identified 2 novel matrix metalloproteinase genes, MMP23A, which they called MMP21, and MMP23B (603321), which they called MMP22. The nucleotide sequences of MMP21 and MMP22 are nearly identical. Using a combination of techniques, the authors isolated cDNAs corresponding to alternatively spliced transcripts that encode 3 protein isoforms, MMP21/22A, MMP21/22B, and MMP21/22C. The MMP21 and MMP22 proteins contain prepro-, catalytic, cysteine-rich, IL1R (147810)-related, and proline-rich domains. Northern blot analysis revealed that a 1.4-kb MMP21/22 transcript was expressed in heart, placenta, ovary, testis, and prostate. A 0.8-kb mRNA was detected in heart and pancreas, and an additional 2.4-kb mRNA was detected in ovary.
Gururajan et al. (1998) determined that the MMP21 and MMP22 genes contain 8 exons each, and the exons generally correspond to the structural domains of the putative protein products.
Gururajan et al. (1998) reported that the MMP21 and MMP22 genes are located within an approximately 140-kb region on chromosome 1p36.3. This region consists of 2 identical genomic segments, each of which contains a CDC2L gene linked to an MMP gene. The 3-prime end of the MMP gene is 500 to 800 bp from the 3-prime end of the adjacent CDC2L gene. The genes are arranged in the order telomere--MMP22--CDC2L2--CDC2L1--MMP21--centromere. The 2 CDC2L genes are separated by approximately 50 kb. Gururajan et al. (1998) stated that although the functional significance of the reiteration of selected genes within the 1p36.3 region is not known, it might reflect instability relevant to the observed deletion of 1p36 during tumorigenesis.
Gururajan, R., Grenet, J., Lahti, J. M., Kidd, V. J. Isolation and characterization of two novel metalloproteinase genes linked to the Cdc2L locus on human chromosome 1p36.3. Genomics 52: 101-106, 1998. [PubMed: 9740677] [Full Text: https://doi.org/10.1006/geno.1998.5401]
Gururajan, R., Lahti, J. M., Grenet, J., Easton, J., Gruber, I., Ambros, P. F., Kidd, V. J. Duplication of a genomic region containing the Cdc2L1-2 and MMP21-22 genes on human chromosome 1p36.3 and their linkage to D1Z2. Genome Res. 8: 929-939, 1998. [PubMed: 9750192] [Full Text: https://doi.org/10.1101/gr.8.9.929]