Chromosome 12q24.11 is a cytogenetic band on the long arm of human chromosome 12. The notation means chromosome 12, long arm q, region 2, band 4, sub-band 1.1.
This region is medically relevant because it contains TRPV4, a gene associated with a group of skeletal and neuromuscular disorders. It also contains or overlaps other genes depending on the exact annotation boundary used.
Location and Notation
The band name is a cytogenetic address rather than a single gene. Cytogenetic bands are visible under a microscope after chromosome staining and are used to describe where genes, variants, deletions or duplications are located.
The exact base-pair coordinates of a band can differ between genome assemblies and annotation systems. For this reason, clinical writing usually names both the cytogenetic band and the specific gene or variant involved.
Genes in the Region
Important genes in or around 12q24.11 include:
- TRPV4, a calcium-permeable ion-channel gene associated with autosomal dominant skeletal dysplasias and neuromuscular disorders
- HVCN1, a voltage-gated proton-channel gene expressed strongly in immune cells
- CUX2, a homeobox transcription-factor gene whose annotated location spans 12q24.11 to 12q24.12
Imported text previously listed several genes in this band that are not located at 12q24.11. For example, MFN2 is on chromosome 1, and SLC17A5 is on chromosome 6. Those claims have been removed.
Clinical Relevance
The best-established clinical link on this page is TRPV4. Pathogenic variants in TRPV4 can cause autosomal dominant TRPV4-related disorders, including skeletal dysplasias and neuromuscular conditions such as Charcot-Marie-Tooth disease type 2C.
The same cytogenetic band can also appear in reports of larger chromosomal deletions or duplications. In those cases, the clinical picture depends on the size of the copy-number change and which genes are affected, not just the band label.
Testing and Interpretation
Genetic testing may report findings by gene name, cytogenetic band, genome assembly coordinate or a combination of these. Small variants are usually interpreted at gene and variant level. Larger deletions or duplications are interpreted by the region and gene content.
A result involving 12q24.11 should therefore be read together with the exact test type, genome build, affected gene or genes, inheritance pattern and clinical findings.
See Also
References
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