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MCCA Rabbit Polyclonal Antibody, 20ul Diagnostic Probes & Oligos and mutations in this gene

SKU: 83372200895

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MCCA Rabbit Polyclonal Antibody, 20ul Diagnostic Probes & Oligos and mutations in this geneThis gene encodes the large subunit of 3 methylcrotonyl CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3 methylcrotonyl CoA to form 3 methylglutaconyl CoA. Mutations in this gene are associated with 3 Methylcrotonylglycinuria an autosomal recessive disorder of leucine catabolism.

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Description

and mutations in this gene are a cause of hereditary leukonychia

The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation

The protein encoded by S100A3 (S100 calcium binding protein A3) is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs

and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome

MCCA Rabbit Polyclonal Antibody, 20ul Diagnostic Probes & Oligos and mutations in this geneThis gene encodes the large subunit of 3 methylcrotonyl CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3 methylcrotonyl CoA to form 3 methylglutaconyl CoA. Mutations in this gene are associated with 3 Methylcrotonylglycinuria an autosomal recessive disorder of leucine catabolism.

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