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Cromossoma 4

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Par de cromossoma 4

O cromossoma 4 é um dos 23 pares de cromossomas do cariótipo humano.

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.

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

Algumas das doenças relacionadas com genes localizados no cromossoma 4:


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