HOXC4 [Neurosurgery Wiki]

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====== HOXC4 ======


This [[gene]] belongs to the [[homeobox]] family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in [[morphogenesis]] in all multicellular organisms. Mammals possess four similar homeobox gene clusters, [[HOXA]], HOXB, HOXC, and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on [[chromosome 12]]. Three genes, HOXC5, HOXC4, and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific [[exon]]s.
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Analysis of unique and powerful [[Utah]] genetic resources allowed the identification of 38 strong candidate Chiari malformation predisposition [[gene]] variants. These variants should be pursued in independent [[population]]s. One of the candidates, a rare [[HOXC4]] variant, was identified in 2 high-risk CM pedigrees, with this variant possibly predisposing patients to a Chiari phenotype with [[craniocervical]] [[kyphosis]]
((Brockmeyer DL, Cheshier SH, Stevens J, Facelli JC, Rowe K, Heiss JD, Musolf A, Viskochil DH, Allen-Brady KL, Cannon-Albright LA. A likely HOXC4 predisposition variant for Chiari malformations. J Neurosurg. 2022 Nov 25:1-9. doi: 10.3171/2022.10.JNS22956. Epub ahead of print. PMID: 36433874.)).