ERCC2 Polyclonal Antibody, 100ul Cryopreservation Defects in CLDN19 are the

Defects in CLDN19 are the cause of hypomagnesemia renal with ocular involvement (HOMGO)

FGF23 encodes a member of the fibroblast growth factor family of proteins

The encoded protein may play an important role in embryogenesis| particularly in neuronal cells| as well as in lymphocyte development and survival

an MAPKK that activates ERKs

ADORA3 encodes a protein (adenosine A3 receptor) that belongs to the family of adenosine receptors

ERCC2 Polyclonal Antibody, 100ul Cryopreservation Defects in CLDN19 are theThe nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2 TFIIH complex. The gene product has ATP dependent DNA helicase activity and belongs to the RAD3 XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer prone syndrome