MCCA Rabbit Polyclonal Antibody, 20ul Diagnostic Probes & Oligos This member mediates a rapidly

This member mediates a rapidly inactivating

severe spinal curvature

It is also highly expressed in FA B-cells of complementation group A

The protein encoded by this gene is a Rab-GTPase-activating protein| and contains two phopshotyrosine-binding domains (PTB1 and PTB2)| a calmodulin-binding domain (CBD)| a Rab-GTPase domain| and multiple AKT phosphomotifs

and mutations in this gene are a cause of hereditary leukonychia

MCCA Rabbit Polyclonal Antibody, 20ul Diagnostic Probes & Oligos This member mediates a rapidlyThis 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.