Chordin-like 1
Chordin-like 1 (CHRDL1) is a protein that in humans is encoded by the CHRDL1 gene. It is a secreted glycoprotein that is involved in bone morphogenetic protein (BMP) signaling, specifically in the regulation of organogenesis and differentiation during embryonic development.
Function[edit | edit source]
CHRDL1 is a BMP antagonist that may play a role in neural development. It is known to inhibit BMP4 activity in Xenopus embryos and mammalian cells. CHRDL1 is expressed in various tissues, with the highest levels in lung, kidney, and bone marrow.
Clinical significance[edit | edit source]
Mutations in the CHRDL1 gene have been associated with X-linked megalocornea (MGC1), a rare disorder characterized by an increased axial length and a deep anterior chamber. Patients with MGC1 have a risk of developing secondary glaucoma.
Structure[edit | edit source]
The CHRDL1 protein is composed of 438 amino acids and has a predicted molecular mass of approximately 49 kDa. It contains a signal peptide, two cysteine-rich domains, and a C-terminal Von Willebrand factor type C domain.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD