SCP-2 Polyclonal Antibody, 100ul Pasteur Pipets Deficiency of this enzyme results

Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome)

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Mutations in this gene are associated with dolichol kinase deficiency

A similar binding pattern was observed with LYN

The copy number of this gene varies among individuals

SCP-2 Polyclonal Antibody, 100ul Pasteur Pipets Deficiency of this enzyme resultsThe synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. Synaptonemal complex protein 2 encoded by SYCP2 is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex.