Huntingtin Polyclonal Antibody, 50ul Liquid Handling Activating mutations in this gene

Activating mutations in this gene are a common cause of congenital hyperinsulinism

A related pseudogene has been identified on chromosome 10

The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family

CKMT2 contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis

Methylation of the promoter of CEBPZ or mutations within CEBPZ may be correlated with occurance of acute myeloid leukemia (AML)

Huntingtin Polyclonal Antibody, 50ul Liquid Handling Activating mutations in this geneHuntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9 35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as