NIPA4 Rabbit Polyclonal Antibody, 100ul Custom DNA Oligos Diseases associated with SLC5A6 include

Diseases associated with SLC5A6 include thiamine metabolism dysfunction syndrome 2 and urinary tract obstruction

Several transcript variants encoding two different isoforms have been found for this gene

Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by NME2) isoforms

GO annotations related to this gene include GTPase activator activity and Rab GTPase binding

encephalopathy

NIPA4 Rabbit Polyclonal Antibody, 100ul Custom DNA Oligos Diseases associated with SLC5A6 includeThis gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis.