Cromossoma 5 (humano)
Origem: Wikipédia, a enciclopédia livre.
O cromossoma 5 é um dos 23 pares de cromossomas do cariótipo humano.
Genes [editar]
- ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif, 2
- APC: adenomatosis polyposis coli
- CAST: Calpastatin
- EGR1: early growth response protein 1
- ERAP1: endoplasmic reticulum aminopeptidase 1 (previously called ARTS-1)
- ERAP2: endoplasmic reticulum aminopeptidase 2
- DTDST: diastrophic dysplasia sulfate transporter
- ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
- FGFR4: fibroblast growth factor receptor 4
- GM2A: GM2 ganglioside activator
- HEXB: hexosaminidase B (beta polypeptide)
- MASS1: monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
- MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
- MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
- NIPBL: Nipped-B homolog (Drosophila)
- NSD1: Transcription coregulator protein
- Pikachurin: Responsible for the functioning of the ribbon synapses; allows the eye to track moving objects
- SLC22A5: solute carrier family 22 (organic cation transporter), member 5
- SLC26A2: solute carrier family 26 (sulfate transporter), member 2
- SMN1: survival motor neuron 1, telomeric
- SMN2: survival motor neuron 2, centromeric
- SNCAIP: synuclein, alpha interacting protein (synphilin)
- SPINK5: serine protease inhibitor Kazal-type 5 (LEKTI)
- SPINK6: serine protease inhibitor Kazal-type 6
- SPINK9: serine protease inhibitor Kazal-type 9 (LEKTI-2)
- TCOF1: Treacher Collins-Franceschetti syndrome 1
- TGFBI: keratoepithelin
- TTC37: Tetratricopeptide repeat domain 37
- FGF1:
Doenças [editar]
Doenças:
- Amiotrofia Espinhal Progressiva
