Chromosome 5

Chromosome 5 is one of the 23 pairs of human chromosomes and is classified as an autosome. Here are some key facts about it:

### General Characteristics - Size: Chromosome 5 is one of the larger chromosomes, spanning approximately 181 million base pairs. - Gene Content: It contains around 900-1,000 protein-coding genes. - Location of Centromere: It has a submetacentric centromere, meaning it has one arm slightly longer than the other.

### Significant Genes Chromosome 5 houses several important genes involved in various biological functions, including: - APC (Adenomatous Polyposis Coli): A tumor suppressor gene associated with colorectal cancer. - EGR1 (Early Growth Response 1): A gene that plays a role in cell growth and differentiation. - SLC9A3 (Sodium/Hydrogen Exchanger 3): Important for kidney function and acid-base balance. - SMN1 & SMN2 (Survival Motor Neuron 1 and 2): Mutations in SMN1 cause Spinal Muscular Atrophy (SMA). - TCOF1 (Treacle Protein 1): Mutations in this gene lead to Treacher Collins Syndrome, a craniofacial disorder.

### Associated Genetic Disorders Several genetic conditions and diseases are linked to mutations or deletions involving chromosome 5: - Cri-du-chat Syndrome: A disorder caused by a deletion of a portion of the short arm (5p), leading to intellectual disability, delayed development, and a characteristic “cat-like” cry in infants. - Spinal Muscular Atrophy (SMA): Caused by mutations in the SMN1 gene, leading to progressive muscle weakness. - Familial Adenomatous Polyposis (FAP): A hereditary condition caused by mutations in the APC gene, leading to numerous precancerous polyps in the colon and a high risk of colorectal cancer.

### Chromosomal Abnormalities - 5p Deletion Syndrome (Cri-du-chat Syndrome): Caused by the loss of a portion of the short arm of chromosome 5. - 5q Deletion Syndrome (5q- Syndrome): A condition associated with myelodysplastic syndromes (MDS), often leading to bone marrow failure.