CSPP1 Polyclonal Antibody, 100ul Bottle-Top Dispenser Mutations in this gene are

Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia

UBE4A encodes a member of the U-box ubiquitin ligase family

the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death

Interacts with DAB2IP and SIAH1 (By similarity)

Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication

CSPP1 Polyclonal Antibody, 100ul Bottle-Top Dispenser Mutations in this gene areThis gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.