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Gene Review:

ESA4 - esterase A4

Homo sapiens

Champion, M.J. et al., Law, S.W. et al., Honey, N.K. et al., Shows, T.B. et al., Wang, A.L. et al.

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Disease relevance of ESA4

The electrophoretic patterns of only beta-hexosaminidase, acid phosphatase-2, alpha-galactosidase, and esterase A4 were sufficient to identify and distinguish the different mucolipidosis types [1].

High impact information on ESA4

Analyses of these subclones permitted the regional assignment of human PBGD and ESA4 to the long arm of chromosome 11 [2].
Cell homogenates of ML II fibroblast lines showed altered mobilities for lysosomal beta-hexosaminidase, acid phosphatase2, and alpha-mannosidase and deficient activity for the esterase-A4 and lysosomal alpha-mannosidase-B electrophoretic phenotypes [3].
Comparison with previously established gene linkages on the mouse and human genome suggests that apoA-I + apoC-III may be linked to the esterase A4 and uroporphyrinogen synthase genes which are present on the long arm of human chromosome 11 [4].
Assignment and linear order of human acid phosphatase-2, esterase A4, and lactate dehydrogenase A genes on chromosome 11 [5].

References

The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. Honey, N.K., Miller, A.L., Shows, T.B. Am. J. Med. Genet. (1981) [Pubmed]
Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter. Wang, A.L., Arredondo-Vega, F.X., Giampietro, P.F., Smith, M., Anderson, W.F., Desnick, R.J. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines. Champion, M.J., Shows, T.B. Am. J. Hum. Genet. (1977) [Pubmed]
Human apolipoprotein A-I and C-III genes reside in the p11----q13 region of chromosome 11. Law, S.W., Gray, G., Brewer, H.B., Sakaguchi, A.Y., Naylor, S.L. Biochem. Biophys. Res. Commun. (1984) [Pubmed]
Assignment and linear order of human acid phosphatase-2, esterase A4, and lactate dehydrogenase A genes on chromosome 11. Shows, T.B., Brown, J.A., Lalley, P.A. Cytogenet. Cell Genet. (1976) [Pubmed]

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