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Diff: Chromosome 12q24.11

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	'''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.

Chromosome 12q24.11 is a specific region on the long arm (q) of human chromosome 12. It spans from position 94,300,000 to 96,800,000 base pairs (bp) on chromosome 12, according to the GRCh38/hg38 human reference genome assembly.
	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.

== Genes and Genetic Features ==
Several genes are located within the region of chromosome 12q24.11. These genes play various roles in cellular functions, development, and disease processes. Some notable genes within this region include:
	== 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.

# TRPV4 (Transient Receptor Potential Vanilloid 4): The TRPV4 gene encodes a calcium-permeable ion channel involved in sensory processes, including thermosensation, mechanosensation, and pain perception. Mutations in TRPV4 have been associated with skeletal dysplasias, peripheral neuropathies, and other disorders.
# WNT5B (Wingless-Type MMTV Integration Site Family, Member 5B): The WNT5B gene belongs to the Wnt family of signaling proteins, which are involved in various developmental processes. WNT5B is associated with cell adhesion, cell migration, and tissue patterning.
# MFN2 (Mitofusin 2): The MFN2 gene encodes a protein involved in mitochondrial fusion, which is crucial for maintaining mitochondrial function and energy production. Mutations in MFN2 have been associated with Charcot-Marie-Tooth disease type 2A, a peripheral neuropathy.
# ATP2B4 (ATPase, Ca2+ Transporting, Plasma Membrane 4): The ATP2B4 gene encodes a calcium-transporting ATPase that regulates calcium levels within cells. This protein is involved in muscle contraction, neuronal signaling, and other cellular processes.
# SLC17A5 (Solute Carrier Family 17 Member 5): The SLC17A5 gene encodes a transporter protein involved in the transportation of sulfate and sialic acid. Mutations in SLC17A5 lead to the accumulation of sialic acid in tissues and cause a lysosomal storage disorder known as sialic acid storage disease.
	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.

== Genetic Disorders and Associations ==
Genetic abnormalities within the chromosome 12q24.11 region have been linked to various genetic disorders. These include:
	== Genes in the Region ==
	Important genes in or around 12q24.11 include:

# Skeletal Dysplasias: Mutations in the TRPV4 gene located within the region have been associated with different forms of skeletal dysplasias, such as brachyolmia, metatropic dysplasia, and spondyloepiphyseal dysplasia.
# Peripheral Neuropathies: Mutations in the MFN2 gene have been implicated in Charcot-Marie-Tooth disease type 2A, a hereditary peripheral neuropathy characterized by progressive muscle weakness and sensory loss.
# Channelopathies: Mutations in the TRPV4 gene can lead to channelopathies, which are disorders caused by dysfunctional ion channels. Examples include familial digital arthropathy-brachydactyly and congenital distal spinal muscular atrophy.
	* '''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

== Research and Future Perspectives ==
Ongoing research aims to further understand the genetic and molecular mechanisms underlying the genes within the chromosome 12q24.11 region. This includes investigating the roles of these genes in normal development, physiology, and disease.
	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.

Advancements in genomic technologies, such as next-generation sequencing, have facilitated the identification of genetic variations within this region and their associations with various disorders. Further studies are necessary to elucidate the precise functions and interactions of the genes in this region and their contributions to human health and disease.
	== 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 ==
	* [[TRPV4]]
	* [[Chromosome_3p25.3]]
	* [[Genetic_Disorder]]
	* [[Channelopathy]]

== References ==	== References ==
	* [https://www.ncbi.nlm.nih.gov/gtr/genes/59341/ NCBI Genetic Testing Registry: TRPV4]
	* [https://www.ncbi.nlm.nih.gov/books/NBK201366/ GeneReviews: Autosomal Dominant TRPV4-Related Disorders]
	* [https://www.ncbi.nlm.nih.gov/gtr/genes/84329/ NCBI Genetic Testing Registry: HVCN1]
	* [https://www.ncbi.nlm.nih.gov/gene/23316 NCBI Gene: CUX2]
	* [https://pubmed.ncbi.nlm.nih.gov/20037586/ Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C]

# Paramei G. V., et al. (2016). Charcot-Marie-Tooth Disease Type 2A. In: Adam M. P., Ardinger H. H., Pagon R. A., et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.
# Malfait F., et al. (2017). Mutations in the TRPV4 gene. In: Adam M. P., Ardinger H. H., Pagon R. A., et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.
# Dawson P. A., et al. (2016). Sialic Acid Storage Disorders. In: Adam M. P., Ardinger H. H., Pagon R. A., et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.
# Clapham D. E., et al. (2005). TRP channels as cellular sensors. Nature. 2005; 426(6966): 517-524.
# Pfisterer P., et al. (2006). Mutations in the gene encoding mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet. 2006; 38(3): 311-312.
	[[Category:Genetics]]
	[[Category:Chromosomes]]
	[[Category:Medicine]]