Cromossoma 14

Par de cromossoma 14

O cromossoma 14 é um dos 23 pares de cromossomas do cariótipo humano.

Características do cromossoma 14

• Número de pares de bases : 106.368.585
• Número de genes : 733
• Número de genes conhecidos : 646
• Número de pseudogenes : 260
• Número de polimorfismos nucleotídicos simples : 268.509

Genes

• ATXN3: Ataxin-3 (Machado-Joseph disease)
• COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
• 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[2]
• NPC2: Niemann-Pick disease, type C2
• PSEN1: presenilin 1 (Alzheimer disease 3)
• SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
• TSHR: thyroid stimulating hormone receptor

Doenças

• Deficiência de alfa-1-antitripsina
• Alzheimer
• Burkitt's lymphoma (t8;14)
• congenital hypothyroidism
• dopamine-responsive dystonia
• Linfoma Folicular (t14;18)
• Cardiomiopatia Hipertrófica
• Doença de Krabbe
• Cranio–lenticulo–sutural dysplasia
• Doença de Machado-Joseph
• Monosomy 14
• Multiple myeloma
• Doença de Niemann-Pick
• Nonsyndromic deafness
• Sensenbrenner syndrome
• Tetrahydrobiopterin deficiency
• Uniparental disomy (UPD) 14