Chromosome+1+(human)

=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.