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FA complementation group C

अंतिम अद्यतन 3 Mar 2025

मरीज की संपादकीय दिशानिर्देशों

The FANCC gene provides instructions for making a protein that is involved in a process known as the Fanconi anaemia (FA) pathway. The FA pathway turns on (activates) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway prevents a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs are abnormal connections between two DNA building blocks (nucleotides) on opposite strands of DNA. These cross-links stop the process of DNA replication and can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs (sometimes known as DNA cross-linking agents).

Normal function

The FANCC gene provides instructions for making a protein that is involved in a process known as the Fanconi anaemia (FA) pathway. The FA pathway turns on (activates) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway prevents a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs are abnormal connections between two DNA building blocks (nucleotides) on opposite strands of DNA. These cross-links stop the process of DNA replication and can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs (sometimes known as DNA cross-linking agents).

The FANCC protein is one of several proteins that form a group known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCC) and two proteins called Fanconi anaemia-associated proteins (FAAPs). This complex activates two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of FANCD2 and FANCI attracts DNA repair proteins to the damaged area of DNA so the cross-link can be removed and DNA replication can continue.

Conditions referring to this gene or chromosome

Other names

FACC

FANCC_HUMAN

Fanconi anaemia, complementation group C

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  • 3 Mar 2025 | नवीनतम संस्करण
  • 1 Mar 2025 | मूल रूप से प्रकाशित

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