FSHR Polyclonal Antibody, 100ul[BT-AP03379] Enzyme Activity Assays Defects in this gene are

Defects in this gene are the cause of LIG4 syndrome

Several transcript variants encoding different isoforms have been found for MEF2A

including afibrinogenemia

and that shares similarity with the intercellular adhesion molecule (ICAM) protein family

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

FSHR Polyclonal Antibody, 100ul[BT-AP03379] Enzyme Activity Assays Defects in this gene areFollicle 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.