Chromosome 1 (human)


In the human genome, chromosome 1 is the largest of the 23 chromosomes. It is a metacentric chromosome, found within group A of the human karyotype. As with all autosomes, somatic cells carry two copies of chromosome 1, while gametes carry only one copy.

Chromosome 1 is approximately 247 Mbp (million base pairs) in length, comprising ~8% of the haploid genome
Chromosome 1 has approximately 4220 genes

Significant genes (and some related genetic diseases) on chromosome 1 include:

  • KCNQ4 (genetic locus: 1p34): encodes potassium voltage-gated channels that play a critical role in neuronal excitability, particularly in the cochlea. A defect in the gene can lead to autosomal-dominant, progressive hearing loss.

  • TSHB (genetic locus: 1p13): encodes thyroid stimulating hormone A defect in the gene can lead to congenital hypothyroidism.

  • F5 (genetic locus: 1q23): encodes Factor V, a coagulant protein involved in blood clotting. A defect in the gene can predispose an individual to haemorrhage and thrombosis

  • MFN2 (genetic locus: 1p36.22): encodes mitofusin-2, a protein involved in regulating the mitochondrial network. Some mutations in this gene may be associated with certain forms of Charcot-Marie Tooth Disease (CMT)

  • NGF (genetic locus: 1p13.1): encodes nerve growth factor, an important protein which maintains the nervous system, may eventually have roles in treating neurological disorders such as Multiple Sclerosis (MS), and plays a role in a number of cardiovascular diseases, including atherosclerosis, type 2 diabetes and metabolic syndromes, as well as psychiatric conditions such as anxiety, depression, schizophrenia and eating disorders.