PRR30


Description

The PRR30 (proline rich 30) is a protein-coding gene located on chromosome 2.

PRR30 (or C2orf53) is a human protein encoded by the PRR30 gene. It's part of the Proline-rich protein family, known for their lack of defined structure. Variations in the number of copies of the PRR30 gene have been linked to an increased risk of neurofibromatosis.

The PRR30 gene is located on the short arm of chromosome 2, specifically at band 2p23.3. It's flanked by the PREB (Prolactin regulatory element binding) and TCF23 (Transcription Factor 23) genes. The PRR30 gene has three exons and spans 2618 base pairs of DNA.

The PRR30 promoter, located directly before the gene, is 1162 base pairs long.

The PRR30 mRNA transcript is 2063 base pairs long. All four splice sites are located within the 5' UTR, and there are no known isoforms or alternative splicing.

The human PRR30 protein is made up of 412 amino acids.

PRR30, also known as C2orf53, is a human protein encoded by the PRR30 gene. It belongs to a family of proteins characterized by their lack of defined structure due to their high proline content. Variations in the number of copies of the PRR30 gene have been linked to an increased risk of developing neurofibromatosis.

PRR30 is also known as C2orf53.

Associated Diseases



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