3rd human chromosome

Chromosome ideogram of the 3rd human chromosome

The 3rd chromosome of a human is one of 23 human chromosomes , one of 22 human autosomes . The chromosome contains almost 200 million base pairs ^[1] , which makes up about 6.5% of all DNA material in human cells . Currently, it is believed that 1960 genes are on the 3rd chromosome ^[1] .

Content

Genes

Listed below are some genes located on the 3rd chromosome .

Leverage p

ALAS1 - δ-aminolevulinate synthetase 1;
BTD - biotinidase;
CCK - cholecystokinin ;
CCR1 — CC chemokine receptor 1;
CCR2 — CC chemokine receptor 2;
CCR3 — CC chemokine 3 receptor ;
CCR4 — CC chemokine 4 receptor ;
CCR5 — CC chemokine receptor 5;
CCR8 — CC chemokine 8 receptor ;
CCR9 — CC chemokine receptor 9;
CNTN4 - contactin 4;
COL7A1 - collagen , type VII, alpha 1;
GHRL - ghrelin ;
ITGA9 - glycoprotein from the superfamily of integrins (alpha-9);
MITF - transcription factor associated with microphthalmia ;
MLH1 - homolog mutL 1 ( E. coli );
PTHR1 - parathyroid hormone receptor 1;
SCN5A - α-subunit of the voltage-gated sodium channel of type V;
SYN2 - synapsin 2;
SLC25A20 - a member of the 20 family of solute transporters 25 (carnitine-acylcarnitine-translocase);
TMIE is a transmembrane protein expressed in the inner ear ;
VHL is a tumor suppressor associated with Hippel-Lindau disease.

Leverage q

AGTR1 - angiotensin receptor 1;
ALCAM - membrane protein, cell adhesion molecule of activated leukocytes (CD166);
BTLA - lymphocytic inhibitory receptor (CD272);
CALRN - calyrin ;
CLRN1 - Clarin 1;
CP - ceruloplasmin (ferroxidase);
CPOX - coproporphyrinogen III oxidase;
HGD - homogenizate-1,2-dioxigenase (homogenizate oxidase);
ITGB5 - glycoprotein from the superfamily of integrins (β5);
LAMP3 is a membrane protein associated with lysosomes;
MCCC1 - α-subunit of methylcrotonyl-CoA carboxylase 1;
PCCB - β-subunit of propionyl CoA carboxylase;
PDCD10 - Programmable Cell Death 10;
PLD1 ;
PIK3CA - catalytic α-subunit of phosphoinositide-3-kinase ;
PFN2 - profilin 2;
RAB7A is a member of the oncogenic family of Ras proteins;
SOX2 - transcription factor of the SOX family ;
TNFSF10 - cytokine of the family of tumor necrosis factors (TRAIL);
TRH - thyroliberin;
ZNF9 - Zinc-finger protein 9.

Diseases and Disorders

Listed below are some diseases associated with the genes of the 3rd chromosome, as well as genes whose defects cause these diseases:

T-cell leukemia ( Eng. T-cell leukemia ) associated with gene translocation ;
alkaptonuria - HGD ;
aceruloplasminemia - CP ;
arrhythmogenic dysplasia of the right ventricle ;
atransferrinemia ( English atransferrinemia ) - TF ;
autism
asymptomatic deafness ( English nonsyndromic deafness ), type DFNB6 - TMIE ;
heart block , progressive and non-progressive;
Hippel's disease - Lindau - VHL ;
Moyamoya disease ;
Hailey's disease - Hailey's ( English Hailey – Hailey disease ) - ATP2C1 ;
Charcot-Marie-Tooth disease , type 2B - RAB7A ;
susceptibility to HIV infection - CCR5 ;
glycogenosis - SLC2A2 ;
3-methylcrotonyl-CoA carboxylase deficiency ( English 3-methylcrotonyl-CoA carboxylase deficiency ) - MCCC1 ;
end plate acetylcholinesterase deficiency ;
biotinidase deficiency ( eng. biotinidase deficiency ) - BTD ;
carnitine-acylcarnitine translocase deficiency ( English carnitine-acylcarnitine translocase deficiency ) - SLC25A20 ;
protein S deficiency ( English protein S deficiency ) - PROS1 ;
diabetes - PPARG ;
dystrophic bullous epidermolysis ( English dystrophic epidermolysis bullosa ) - COL7A1 ; ^[2]
cavernous angioma ( English cerebral cavernous malformation ) - PDCD10 ;
cataract
leukoencephalopathy with vanishing white matter ( English leukoencephalopathy with vanishing white matter ) - EIF2B5 ;
lymphoma
Jansen's metaphysical chondrodysplasia ( English Jansen's metaphyseal chondrodysplasia ) - PTHR1 ;
myotonic dystrophy ( English myotonic dystrophy ), type 2 - ZNF9 ;
mucopolysaccharidosis , type IX - HYAL1 ;
hereditary coproporphyria ( English hereditary coproporphyria ) - CPOX ;
hereditary motor and sensory neuropathy , type Okinawa;
hereditary non-polypous colorectal cancer ( English hereditary nonpolyposis colorectal cancer ), colon cancer - MLH1 ;
sucrose intolerance ( English sucrose intolerance );
short stature ( English short stature );
nictalopia ;
primary open-angle glaucoma ;
Xeroderma pigmentosa , type C (III);
predisposition to malignant hyperthermia ( English malignant hyperthermia );
propionic acidemia ( eng. propionic acidemia ) - PCCB ;
Zellweger pseudosyndrome ( English pseudo-Zellweger syndrome );
breast cancer
lung cancer
pancreatic cancer ;
colon cancer ;
ovarian cancer ;
familial hypobetalipoproteinemia ( English familial hypobetalipoproteinemia );
septo -optic dysplasia ( English septo-optic dysplasia ) - HESX1 ;
syndrome of blepharophimosis, ptosis and epicanthus inversus ( English blepharophimosis, ptosis, and epicanthus inversus syndrome );
Brugada syndrome , types 1 and 2 - SCN5A and GPD1L ;
Waardenburg syndrome - MITF ;
long QT syndrome , types 3 and 9 - SCN5A and CAV3 ;
chromosome 3q duplication syndrome ;
Mobius syndrome ;
Muir – Torre syndrome ;
Romano-Ward syndrome ( English Romano – Ward syndrome ) - SCN5A ;
Usher syndrome , type III - CLRN1 ;
spinocerebellar ataxia - ATXN7 ;
harderoporphyria - CPOX ;
essential tremor .

Notes

↑ ¹ ² Human chromosome 3 map view . Vertebrate Genome Annotation (VEGA) database . The Wellcome Trust Sanger Institute . - Chromosome map and its main parameters: size, number of genes, etc. Date of treatment August 7, 2009. Archived on April 5, 2012.
↑ Dang N., Murrell DF Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa // Experimental Dermatology . - 2008 .-- Vol. 17 (7). - P. 553-568. - DOI : 10.1111 / j.1600-0625.2008.00723.x . . PMID 18558993 .

[vega-1] ¹ ² Human chromosome 3 map view . Vertebrate Genome Annotation (VEGA) database . The Wellcome Trust Sanger Institute . - Chromosome map and its main parameters: size, number of genes, etc. Date of treatment August 7, 2009. Archived on April 5, 2012.

[dang2008-2] Dang N., Murrell DF Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa // Experimental Dermatology . - 2008 .-- Vol. 17 (7). - P. 553-568. - DOI : 10.1111 / j.1600-0625.2008.00723.x . . PMID 18558993 .