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Human Dnaj Homolog Subfamily C Member 12, DNAJC12 ELISA Kit, 96T Organelle Studies Mutations in this gene cause

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Human Dnaj Homolog Subfamily C Member 12, DNAJC12 ELISA Kit, 96T Organelle Studies Mutations in this gene cause

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Description

Mutations in this gene cause primary ciliary dyskinesia type 3| as well as Kartagener syndrome| which are both diseases due to ciliary defects

At least one additional MEF2B variant and isoform can be expressed from a downstream promoter

An important paralog of this gene is AKT1

Regulates age-related changes in microglial numbers (PubMed: 30548312

MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al

Human Dnaj Homolog Subfamily C Member 12, DNAJC12 ELISA Kit, 96T Organelle Studies Mutations in this gene cause

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