HGNC Approved Gene Symbol: MYL5
Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:674,542-682,028 (from NCBI)
Myosin participates in various cellular functions ranging from cytokinesis, receptor capping, and secretion to sarcomere contraction. In the course of studying a region of 4p16.3 where the Huntington disease (HD; 143100) locus is located, Collins et al. (1992) found a gene that maps 7 kb proximal to, and in same transcriptional polarity as, the gene for the beta subunit of rod cell photoreceptor cGMP photodiesterase (PDEB; 180072). Analysis of both nucleotide and predicted amino acid sequences suggested that this gene encodes a novel myosin light chain isoprotein, MYL5. Identical cDNAs were isolated from human adult retina and fetal muscle cDNA libraries. Expression of the gene was detected in adult retina, cerebellum, basal ganglia, and fetal skeletal muscle. MYL5 is a regulatory light chain of the MLC2 (160781) type. (Myosin is a hexameric ATPase composed of 2 heavy chains (MHC), 2 nonphosphorylated alkali light chains (MLC-1/3), and 2 phosphorylatable regulatory light chains (MLC2).)
The MYL5 gene maps 700 kb from the 4p telomere (Collins et al., 1992).
Collins, C., Schappert, K., Hayden, M. R. The genomic organization of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates. Hum. Molec. Genet. 1: 727-733, 1992. [PubMed: 1284596]