Cromossoma 4
O cromossoma 4 é um dos 23 pares de cromossomas do cariótipo humano.
Par de cromossoma 4
Possui cerca de 186 milhões de pares de bases e representa cerca de 6% a 6,5% de todo o DNA presente na célula.
Contém entre 700 e 1110 genes.
Genes
| Locus | Gene | Descrição |
|---|---|---|
| 4q25-q27 | ANK2 | ankyrin 2, neuronal |
| Complement Factor I | Complement Factor I | |
| CRMP1 | Collapsin response mediator protein 1, a member of CRMP family | |
| CXCL1 | chemokine (C-X-C motif) ligand 1, scyb1 | |
| CXCL2 | chemokine (C-X-C motif) ligand 2, scyb2 | |
| CXCL3 | chemokine (C-X-C motif) ligand 3, scyb3 | |
| CXCL4 | chemokine (C-X-C motif) ligand 4, Platelet factor-4, PF-4, scyb4 | |
| CXCL5 | chemokine (C-X-C motif) ligand 5, scyb5 | |
| CXCL6 | chemokine (C-X-C motif) ligand 6, scyb6 | |
| CXCL7 | chemokine (C-X-C motif) ligand 7, PPBP, scyb7 | |
| CXCL8 | chemokine (C-X-C motif) ligand 8, interleukin 8 (IL-8), scyb8 | |
| CXCL9 | chemokine (C-X-C motif) ligand 9, scyb9 | |
| CXCL10 | chemokine (C-X-C motif) ligand 10, scyb10 | |
| CXCL11 | chemokine (C-X-C motif) ligand 11, scyb11 | |
| CXCL13 | chemokine (C-X-C motif) ligand 13, scyb13 | |
| DUX4 | Thought to be inactive but 2010 research shows a key role in FSHD[3] | |
| EVC | Ellis van Creveld syndrome | |
| EVC2 | Ellis van Creveld syndrome 2 (limbin) | |
| Factor XI | Mutations cause Haemophilia C | |
| FGF2 | Fibroblast growth factor 2 (basic fibroblast growth factor) | |
| FGFR3 | fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism, bladder cancer) | |
| FGFRL1 | fibroblast growth factor receptor-like 1 | |
| HCL2 (also called RHA or RHC) | related to red hair | |
| HTT (Huntingtin) | huntingtin protein (Huntington's disease) | |
| IGJ | linker protein for immunoglobulin alpha and mu polypeptides | |
| KDR | Kinase insert domain receptor (Vascular endothelial growth factor receptor 2) | |
| MMAA | methylmalonic aciduria (cobalamin deficiency) cblA type | |
| PHOX2B | codes for a homeodomain transcription factor | |
| PKD2 | polycystic kidney disease 2 (autosomal dominant) | |
| PLK4 | Serine/threonine-protein kinase PLK4 | |
| QDPR | quinoid dihydropteridine reductase | |
| STATH | gene with protein product | |
| SNCA | synuclein, alpha (non A4 component of amyloid precursor) | |
| UCHL1 | ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) | |
| UNC5C | netrin receptor UNC5C | |
| WFS1 |
Doenças
Algumas das doenças relacionadas com genes localizados no cromossoma 4:
- Síndrome de Ellis-Van Creveld
- Hipocondroplasia
- Acondroplasia
- Doença de Huntington
- Acidemia metilmalónica
- Síndrome de Muenke
- Surdez não sindrómica
- Surdez não-sindrómica, autossómica dominante
- Síndrome de Romano-Ward
- Doença de Parkinson
- Displasia tanatofórica
- Displasia tanatofórica (tipo 1)
- Displasia tanatofórica (tipo 2)
- Cancro da bexiga
- Doença renal policística
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