MFRP Polyclonal Antibody, 20ul[BT-AP11303] Nucleic Acid Amplification Mutations in this gene are

Mutations in this gene are associated with pyridoxine-dependent epilepsy

The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor

The beta subunit is the same in both the muscle and hepatic isoforms| and encoded by one gene

WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD)| which may facilitate formation of heterotrimeric or multi-protein complexes

MFRP Polyclonal Antibody, 20ul[BT-AP11303] Nucleic Acid Amplification Mutations in this gene areThis gene encodes a member of the frizzled related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5).