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SPICE1-CFAP44 readthrough (SPICE1-CFAP44)
- Target
- SPICE1-CFAP44
- Molecular classification
- Other (classified as a readthrough transcript; affiliated with the ncRNA (non-coding RNA) class)
01
Overview
SPICE1-CFAP44 readthrough refers to an RNA species generated from transcription extending from the SPICE1 gene into the adjacent CFAP44 gene on chromosome 3. The resulting transcript is non-coding, classified as a candidate for nonsense-mediated mRNA decay (NMD), and thus is unlikely to encode a functional protein product. Although both SPICE1 and CFAP44 code for proteins implicated in centrosome/spindle function and cilia/flagella biology, respectively, with CFAP44 variants linked to male infertility (spermatogenic failure 20), the SPICE1-CFAP44 readthrough entity itself is not considered a therapeutic target nor does it have established biological or disease relevance[1][2][3][5][7].
- Other names
- GC03M113301GC03M113310SPICE1-CFAP44 Readthrough (NMD Candidate)
02
Biological functions
Other (its main “function” is to represent the product of transcriptional readthrough between SPICE1 and CFAP44, but there is no evidence for a biological role, as it is likely targeted for decay by NMD)
03
Disease associations
Other (disease associations relate to defects/mutations in CFAP44—not the SPICE1-CFAP44 readthrough itself; SPICE1-CFAP44 is associated in rare disease catalogs as a non-coding locus in studies of spermatogenic failure, but not as a causative agent)
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