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CD6 Polyclonal Antibody, 100ul[BT-AP01975] Metabolic enzymes Deficiency in this enzyme has

SKU: 95529018048

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CD6 Polyclonal Antibody, 100ul[BT-AP01975] Metabolic enzymes Deficiency in this enzyme hasCLIC6 (chloride intracellular channel 6) encodes a member of the chloride intracellular channel family of proteins. CLIC6 is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms.

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Description

Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures

Additional transcript variants have been found

as well as KRTHB3 and KRTHB6

resulting in repression of MEF2-dependent genes

Cadherins play a role in development

CD6 Polyclonal Antibody, 100ul[BT-AP01975] Metabolic enzymes Deficiency in this enzyme hasCLIC6 (chloride intracellular channel 6) encodes a member of the chloride intracellular channel family of proteins. CLIC6 is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms.

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