POP1 (gene)
POP1 (Processing of Precursor 1, Ribonuclease P/MRP Subunit Homolog) is a gene that encodes a protein involved in the processing of precursor RNAs in humans. This gene is located on the long (q) arm of chromosome 1 at position 32.1.
Function[edit | edit source]
The POP1 gene encodes a protein that is a component of the ribonuclease P complex, which is involved in tRNA maturation. The protein is also a component of the ribonuclease MRP complex, which is involved in pre-rRNA processing. Mutations in this gene have been associated with cartilage-hair hypoplasia.
Clinical significance[edit | edit source]
Mutations in the POP1 gene have been associated with Anauxetic dysplasia, a rare type of skeletal dysplasia. This condition is characterized by severe short stature, abnormal bone development, and other skeletal abnormalities.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- POP1 at the National Center for Biotechnology Information
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