YMEL1 Rabbit Polyclonal Antibody, 50ul Monoclonal Antibody Preparation Mutations in the gene are

Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix

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The protein encoded by this gene belongs to the class II cytokine receptor family

and share DNA-binding

which is known to mediate signal transduction of tumor necrosis factor receptors

YMEL1 Rabbit Polyclonal Antibody, 50ul Monoclonal Antibody Preparation Mutations in the gene areThe protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene.