Chromosome 1 (human)

Chromosome 1 is, by convention, the designation for the largest human chromosome. People normally have two copies of chromosome 1, as they do with all of the autosomes (the non-sex chromosomes). Chromosome 1 spans about 246 million nucleotide base pairs (the building blocks of DNA) and represents about 8% of the total DNA in humans.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 1 likely contains between 2,100 and 2,600 genes.

Genes
The following are some of the genes located on chromosome 1:
 * ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
 * COL11A1: collagen, type XI, alpha 1
 * CPT2: carnitine palmitoyltransferase II
 * DBT: dihydrolipoamide branched chain transacylase E2
 * DIRAS3: DIRAS family, GTP-binding RAS-like 3
 * ESPN (gene): espin (autosomal recessive deafness 36)
 * F5: coagulation factor V (proaccelerin, labile factor)
 * FMO3: flavin containing monooxygenase 3
 * GALE: UDP-galactose-4-epimerase
 * GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)
 * GJB3: gap junction protein, beta 3, 31kDa (connexin 31)
 * GLC1A: gene for glaucoma
 * HFE2: hemochromatosis type 2 (juvenile)
 * HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
 * HPC1: gene for prostate cancer
 * IRF6: gene for connective tissue formation
 * KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
 * KIF1B: kinesin family member 1B
 * LMNA: lamin A/C
 * MFN2: mitofusin 2
 * MPZ: myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
 * MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)
 * MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
 * MUTYH: mutY homolog (E. coli)
 * PARK7: Parkinson disease (autosomal recessive, early onset) 7
 * PINK1: PTEN induced putative kinase 1
 * PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
 * PPOX: protoporphyrinogen oxidase
 * PSEN2: presenilin 2 (Alzheimer disease 4)
 * TSHB: thyroid stimulating hormone, beta
 * UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)
 * USH2A: Usher syndrome 2A (autosomal recessive, mild)

Diseases
The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases (890 total) of any human chromosome):
 * Alzheimer disease
 * Alzheimer disease, type 4
 * breast cancer
 * carnitine palmitoyltransferase II deficiency
 * Charcot-Marie-Tooth disease
 * Charcot-Marie-Tooth disease, type 1
 * Charcot-Marie-Tooth disease, type 2
 * collagenopathy, types II and XI
 * congenital hypothyroidism
 * deafness, autosomal recessive deafness 36
 * Ehlers-Danlos syndrome
 * Ehlers-Danlos syndrome, kyphoscoliosis type
 * factor V Leiden thrombophilia
 * familial adenomatous polyposis
 * galactosemia
 * Gaucher disease
 * Gaucher disease, type 1
 * Gaucher disease, type 2
 * Gaucher disease, type 3
 * Gaucher-like disease
 * glaucoma
 * hemochromatosis
 * hemochromatosis, type 2
 * hepatoerythropoietic porphyria
 * homocystinuria
 * Hutchinson-Gilford progeria syndrome
 * 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
 * maple syrup urine disease
 * medium-chain acyl-coenzyme A dehydrogenase deficiency
 * nonsyndromic deafness
 * nonsyndromic deafness, autosomal dominant
 * nonsyndromic deafness, autosomal recessive
 * Parkinson disease
 * porphyria
 * porphyria cutanea tarda
 * popliteal pterygium syndrome
 * prostate cancer
 * Stickler syndrome
 * Stickler syndrome, COL11A1
 * trimethylaminuria
 * Usher syndrome
 * Usher syndrome type II
 * Van der Woude syndrome
 * variegate porphyria