ST8SIA4 Summary

The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ST8SIA4 Details

Gene Symbol : ST8SIA4

Gene Name : ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4

Chromosome : CHR 5: 100,903,284-100,806,934

Locus : 5q21.1

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ATP6V1H Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

ATP6V1H Details

Gene Symbol : ATP6V1H

Gene Name : ATPase H+ transporting V1 subunit H

Chromosome : CHR 8: 538,433,10-537,155,42

Locus : 8q11.23

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