Alternative titles; symbols
HGNC Approved Gene Symbol: GANC
Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:42,273,201-42,353,666 (from NCBI)
Martiniuk et al. (1979, 1980) assigned a locus for this enzyme to chromosome 15. They also found a genetic polymorphism by starch gel electrophoresis, including a null allele. Martiniuk and Hirschhorn (1980) concluded that a combination of starch gel electrophoresis and isoelectric focusing permits recognition of 7 phenotypes resulting from 4 different alleles. The product of one of the alleles is 'silent,' with an unusually high gene frequency--0.174 in whites. About one-third of the population is heterozygous 'null.' It appears that the homozygous state does not result in disease.
Hirschhorn et al. (2002) reported both the in silico and physical cloning of 2 alleles of GANC. The cloning and correct identification and annotation as GANC was possible by application of the biochemical and genetic information previously developed regarding this gene to the results of the in silico method. They found that this glucosidase, a member of family 31 glycosyl hydrolases, is involved in glycogen metabolism and degradation and localizes to a chromosomal region (15q15) reported to confer susceptibility to diabetes (Hanis et al., 1996; Cox et al., 1999). Hirschhorn et al. (2002) hypothesized that variation in GANC may be associated with differences in severity of glycogen storage disorders.
Hirschhorn et al. (2002) mapped the GANC gene to chromosome 15q15.1-q15.2 based on sequence similarity with a mapped STS. The mapped CAPN3 gene (114240) resides approximately 6 kb 3-prime of GANC.
Cox, N. J., Frigge, M., Nicolae, D. L., Concannon, P., Hanis, C. L., Bell, G. I., Kong, A. Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans. Nature Genet. 21: 213-215, 1999. [PubMed: 9988276] [Full Text: https://doi.org/10.1038/6002]
Hanis, C. L., Boerwinkle, E., Chakraborty, R., Ellsworth, D. L., Concannon, P., Stirling, B., Morrison, V. A., Wapelhorst, B., Spielman, R. S., Gogolin-Ewens, K. J., Shephard, J. M., Williams, S. R., and 21 others. A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nature Genet. 13: 161-166, 1996. [PubMed: 8640221] [Full Text: https://doi.org/10.1038/ng0696-161]
Hirschhorn, R., Huie, M. L., Kasper, J. S. Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31. Proc. Nat. Acad. Sci. 99: 13642-13646, 2002. [PubMed: 12370436] [Full Text: https://doi.org/10.1073/pnas.202383599]
Martiniuk, F., Hirschhorn, R. Human neutral alpha-glucosidase C: genetic polymorphism including a 'null' allele. Am. J. Hum. Genet. 32: 497-507, 1980. [PubMed: 6994494]
Martiniuk, F., Hirschhorn, R., Smith, M. Assignment of human neutral alpha-glucosidase C to chromosome 15. (Abstract) Cytogenet. Cell Genet. 25: 182 only, 1979.
Martiniuk, F., Hirschhorn, R., Smith, M. Assignment of the gene for human neutral alpha-glucosidase C to chromosome 15. Cytogenet. Cell Genet. 27: 168-175, 1980. [PubMed: 6995030] [Full Text: https://doi.org/10.1159/000131478]