NTAL Polyclonal Antibody, 50ul Cell Culture Dishes The encoded protein functions as

The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel| and may play a role in kidney tumorigenesis

MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A

autosomal dominant iridogoniodysgenesis anomaly

and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release

This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family

NTAL Polyclonal Antibody, 50ul Cell Culture Dishes The encoded protein functions asThis gene is one of the contiguous genes at 7q11. 23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein.