Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by 9%, with one estimate giving 2,055 genes, and the other estimate giving 1,894 genes.
The centromere of chromosome 14 is positioned approximately at position 19.0-19.1 Mbp.
The following are some of the genes located on chromosome 14:
ACIN1: encoding protein Apoptotic chromatin condensation inducer in the nucleus
ATXN3: Ataxin-3 (Machado-Joseph disease)
C14orf32/MAPK1IP1L: encoding protein MAPK-interacting and spindle-stabilizing protein-like
C14orf79: encoding protein Uncharacterized protein C14orf79
C14orf93: encoding protein C14orf93
C14orf133: encoding protein Uncharacterized protein C14orf133
C14orf159: encoding protein UPF0317 protein C14orf159, mitochondrial
C14orf166: encoding protein UPF0568 protein C14orf166
C14orf169: encoding protein Chromosome 14 open reading frame 169
COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
DDX24: encoding enzyme ATP-dependent RNA helicase DDX24
GALC: galactosylceramidase (Krabbe disease)
GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
IGH@: immunoglobulin heavy chain locus
IFT43: intraflagellar transport 43
MYH7: myosin heavy chain beta (MHC-β) isoform
NPC2: Niemann-Pick disease, type C2
PSEN1: presenilin 1 (Alzheimer disease 3)
RPL10L: encoding protein 60S ribosomal protein L10-like
SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
TSHR: thyroid stimulating hormone receptor
FAM71D: Family With Sequence Similarity 71, Member D
Diseases and disorders
The following diseases are some of those related to genes on chromosome 14:
alpha-1 antitrypsin deficiency
Alzheimer disease
Burkitt's lymphoma (t8;14)
congenital hypothyroidism
dopamine-responsive dystonia
Follicular lymphoma (t14;18)
Hypertrophic cardiomyopathy
Krabbe disease
Cranio–lenticulo–sutural dysplasia
Machado-Joseph disease
Mosaic monosomy 14
Multiple myeloma
Niemann-Pick disease
Nonsyndromic deafness
Sensenbrenner syndrome
Tetrahydrobiopterin deficiency
Uniparental disomy (UPD) 14
