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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

It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system

thymus and fetal liver

An important paralog of this gene is AKT1

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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