The C9orf72 gene is located on the short (p) arm of human chromosome 9.
This gene plays a significant role in various cellular functions, and its exact location is crucial for understanding its impact on human health, particularly in neurodegenerative diseases.
Exact Location Details of the C9orf72 Gene
The human C9orf72 gene is precisely mapped on chromosome 9. Here are the detailed specifics of its genomic and cytogenetic location:
| Detail | Value |
|---|---|
| Chromosome | 9 |
| Arm | Short (p) arm |
| Cytogenetic Location | 9p21.2 |
| Genomic Coordinates | Base pair 27,546,546 to 27,573,866 (GRCh38 build) |
This information is based on the GRCh38 human genome assembly, which is the current reference genome used for precise gene mapping.
What is a Cytogenetic Location (9p21.2)?
The cytogenetic location, like 9p21.2, provides a more visual description of a gene's position on a chromosome.
- 9: Refers to chromosome 9.
- p: Indicates the short arm of the chromosome (while 'q' would denote the long arm).
- 21.2: Represents the specific band and sub-band on the chromosome arm. Chromosomes are divided into regions, then bands, and sometimes sub-bands, which are visible under a microscope.
Protein Location and Function
While the gene itself is located within the nucleus on a chromosome, the protein it codes for, also named C9orf72, is found throughout the cell. This protein is widely distributed in the body, with a notable presence in many regions of the brain. Within neurons, the C9orf72 protein is primarily found in the cytoplasm and is also present in presynaptic terminals. The widespread distribution of the C9orf72 protein highlights its fundamental roles in cellular processes, particularly in the nervous system.
For more information on the C9orf72 gene and its functions, you can refer to resources like Wikipedia.
