ACVR1C

ACVR1C is a human gene that encodes for Activin A receptor, type IC, a type I serine/threonine kinase receptor. It is also known as ALK7 (Activin Receptor-Like Kinase 7).

Function:

ACVR1C is a transmembrane protein that binds activins and other members of the TGF-beta superfamily of ligands. Upon ligand binding, ACVR1C forms a heteromeric complex with a type II serine/threonine kinase receptor, such as ActRII or ActRIIB. The type II receptor then phosphorylates and activates ACVR1C, initiating a signaling cascade that ultimately affects gene transcription.

ACVR1C is primarily expressed in the pancreas, ovaries, and testes. It plays a role in regulating diverse cellular processes, including cell growth, differentiation, apoptosis, and endocrine function. Specifically, it has been implicated in the regulation of glucose homeostasis and insulin secretion in the pancreas, and in the regulation of ovarian function and folliculogenesis in the ovaries. In the testes, ACVR1C contributes to spermatogenesis.

Clinical Significance:

Mutations in the ACVR1C gene have been linked to several conditions, including:

• Polycystic Ovary Syndrome (PCOS): Certain variations in the ACVR1C gene have been associated with an increased risk of developing PCOS, a common endocrine disorder affecting women of reproductive age.

• Infertility: Dysregulation of ACVR1C signaling can contribute to infertility in both males and females by affecting gametogenesis and reproductive organ function.

Interactions:

ACVR1C interacts with various proteins, including:

• Activin A: A ligand that binds to ACVR1C, initiating the signaling cascade.
• ActRII/ActRIIB: Type II receptors that heterodimerize with ACVR1C upon ligand binding.
• SMAD proteins: Intracellular signaling molecules that are phosphorylated and activated by ACVR1C, leading to the regulation of gene expression.