FSHR Polyclonal Antibody, 100ul[BT-AP03379] Enzyme Activity Assays disease:Defects in NOTCH1 are a

disease:Defects in NOTCH1 are a cause of aortic valve disease

TGFB1/TGFB

and a role in the stable assembly of the outer kinetochore

Localizes to the cell cortex and this requires ERC1 and PHLDB2

Defects in this gene are the cause of LIG4 syndrome

FSHR Polyclonal Antibody, 100ul[BT-AP03379] Enzyme Activity Assays disease:Defects in NOTCH1 are aFollicle stimulating hormone receptor encoded by FSHR belongs to family 1 of G protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants.