Cytokine-like protein 1
Cytokine-like protein 1 (CLP1), also known as Homo sapiens cytokine-like protein 1 (HSCL1), is a protein that in humans is encoded by the CLP1 gene. This protein is a member of the cytokine family, a group of small proteins that are important in cell signaling.
Function[edit | edit source]
The CLP1 protein is a kinase that plays a crucial role in the RNA processing pathway. It is involved in the 3' end formation of histone mRNAs and the control of cell proliferation. Mutations in the CLP1 gene can lead to neurological disorders, including neurodegeneration and motor neuron disease.
Structure[edit | edit source]
The CLP1 protein is composed of 496 amino acids and has a molecular weight of approximately 55 kDa. It contains a kinase domain, which is responsible for its enzymatic activity, and a P-loop motif, which is involved in ATP binding.
Clinical significance[edit | edit source]
Mutations in the CLP1 gene have been associated with a rare neurological disorder known as Perrault syndrome. This condition is characterized by sensorineural hearing loss and ovarian dysfunction in females. In addition, mutations in this gene have also been linked to a form of motor neuron disease.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD