23 Chromosomes and Their Functions
Each of the 23 chromosome pairs has a distinct set of genes that codes for specific proteins. These proteins have different functions in the body and can be summarized as follows:
|
Name of Chromosome Pair |
Gene Present |
Function |
Chromosome Disorder |
|---|---|---|---|
|
1 |
TP53, APP, NOTCH2, GJB3 |
Regulation of cell cycle, intellectual ability, and development. |
Li-Fraumeni syndrome, Alzheimer’s disease. |
|
2 |
BRCA2, MYCN, APPBP2 |
DNA repair, Neuroblastoma. |
Breast and ovarian cancer, Neuroblastoma. |
|
3 |
MLH1, TP73, CREBBP |
DNA repair, Apoptosis, Transcription |
Lynch syndrome, Rubinstein-Taybi syndrome |
|
4 |
FGFR3, EDAR, TLR3 |
Development, Immune response |
Achondroplasia, Hypohidrotic ectodermal dysplasia |
|
5 |
APC, ADAMTS2, IRF1 |
WNt signaling, Extracellular matrix |
Familial adenomatous polyposis, Aortic aneurysm |
|
6 |
HFE, PARK2, TBP |
Iron homeostasis, Parkinson’s |
Hereditary hemochromatosis, Parkinson’s disease |
|
7 |
CFTR, BRAF, FOXP2 |
Cystic fibrosis, Cell signaling |
Cystic fibrosis, Williams syndrome |
|
8 |
FGFR1, MYC, RAD21 |
Cell growth, Transcription |
Kallmann syndrome, Burkitt lymphoma |
|
9 |
ABO, NOTCH1, DMRT1 |
Blood type, Notch signaling |
ABO blood group system, Alagille syndrome |
|
10 |
PTEN, FGFR2, MXI1 |
Cell cycle regulation, Development |
Cowden syndrome, Craniosynostosis |
|
11 |
FOLR1, ATM, WT1 |
Folate metabolism, DNA repair |
Cystic fibrosis, Wilms tumor |
|
12 |
KIT, BRCA1, CDK4 |
Cell signaling, DNA repair |
Gastrointestinal stromal tumor, Breast cancer |
|
13 |
RB1, BRCA2, FOXO1 |
Cell cycle regulation, DNA repair |
Retinoblastoma, Breast cancer |
|
14 |
ADAM32, NKX2-5, PRMT5 |
Spermatogenesis, Heart development |
Klinefelter syndrome, Cardiac defects |
|
15 |
SNRPN, UBE3A, SMAD7 |
Imprinting, Ubiquitin-proteasome |
Angelman syndrome, Marfan syndrome |
|
16 |
CDH1, FANCA, SALL1 |
Cell adhesion, DNA repair |
Hereditary diffuse gastric cancer, Townes-Brocks syndrome |
|
17 |
TP53, BRCA1, ERBB2 |
Cell cycle regulation, Breast cancer |
Li-Fraumeni syndrome, Breast cancer |
|
18 |
SMAD2, DCC, PMP22 |
TGF-beta signalling, Cell adhesion |
Edwards syndrome, Hirschsprung’s disease |
|
19 |
APOE, CACNA1A, LIPC |
Lipid metabolism, Ion channels |
Alzheimer’s disease, Familial hypercholesterolemia |
|
20 |
BMP2, GNAS, TFAP2B |
Bone development, G protein signalling |
Albright hereditary osteodystrophy, Brachydactyly |
|
21 |
APP, RUNX1, DSCR1 |
Alzheimer’s, Blood cell formation |
Down syndrome (Trisomy of 21), Acute myeloid leukaemia |
|
22 |
CHEK2, TBR1, SLC25A13 |
DNA repair, Brain development |
Li-Fraumeni syndrome, Citrin deficiency |
|
X |
XIST, FMR1, SHOX |
X chromosome inactivation, Fragile X |
Albright hereditary osteodystrophy, Brachydactyly |
|
Y |
SRY, AMELY, USP9Y |
Male sex determination, Y-linked genes |
Male infertility, Swyer syndrome |
23 Chromosomes – Functions and Types of Chromosomes
Chromosomes are made of DNA molecules and are found in the nucleus of a cell. There are 23 chromosome pairs in humans. Transporting genetic information from one cell generation to the next is the main function of chromosomes. Several genes on each chromosome code for different proteins. The features of the entire organism are influenced by or determined by these genes.
Table of Content
- What are Chromosomes?
- Human Chromosome Types
- 23 Chromosomes and Their Functions
- Structure of Chromosome
- Different types of Chromosomes
- Genetic Mapping with Chromosomes
- Function of X and Y Chromosomes
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