C1orf68
Decoding the Enigma of c1orf68: A Comprehensive Guide
Description
c1orf68, also known as chromosome 1 open reading frame 68, is a gene located in the long arm (q) of chromosome 1 in humans. It is transcribed into a protein that plays a crucial role in various cellular processes.
The c1orf68 gene contains 12 exons and encodes a protein with 439 amino acids known as FLCCH4 (fetoprotein like cellular homolog 4). FLCCH4 belongs to the FLCN family of proteins, which are characterized by their involvement in cell cycle regulation and tumor suppression.
Associated Diseases
Mutations in the c1orf68 gene have been linked to several diseases, including:
1. Birt-Hogg-Dubé Syndrome (BHD): An inherited condition characterized by cutaneous fibrofolliculomas, pulmonary cysts, and renal cancer. 2. Chromosome 1q21 Duplication Syndrome: A genetic disorder caused by the duplication of a specific region of chromosome 1, including the c1orf68 gene. This syndrome is associated with developmental delays, intellectual disability, and distinctive facial features. 3. Cancer: Mutations in c1orf68 have been implicated in the development of certain types of cancer, including lung adenocarcinoma, breast cancer, and endometrial cancer.
Did you Know ?
According to the National Institutes of Health, approximately 1 in 40,000 individuals are affected by Birt-Hogg-Dubé Syndrome, which is the most common disease associated with c1orf68 mutations.
