NTAL Polyclonal Antibody, 50ul Cell Culture Dishes autosomal dominant iridogoniodysgenesis anomaly

autosomal dominant iridogoniodysgenesis anomaly

Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase

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

This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors

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

NTAL Polyclonal Antibody, 50ul Cell Culture Dishes autosomal dominant iridogoniodysgenesis anomalyThis 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.