Chromosome 11 (human)
Chromosome 11 is one of 23 pairs of chromosomes in humans. A normal person has two nearly identical copies of this chromosome in most of its cells.
Decryption of chromosome 11
The chromosome 11 consists of 134 million base pairs. A base pair is the smallest information unit of DNA. Chromosome 11 contains approximately 4 to 4.5 % of the total DNA of a human cell. The identification of the genes on this chromosome is the part of the ongoing process of the human genome. On chromosome 11 are 1300-1900 genes. So far in 1368 it is known.
Although the chromosome 11 from the size it is only a medium-sized human chromosome, it carries an extremely high number of genes. As a result, even according to many diseases and symptoms (in 2006, 171) have their origin in mutations and disorders of the genes of this chromosome. 765 pseudogenes, which are no longer functional ( " disconnected " ) genes were identified in 2006 at the DNA sequencing.
Known genes on chromosome 11
The chromosome 11 contains the following genes:
- ADM: adrenomedullin
- BAD: Bcl -2- antagonist of cell death,
- LIM motif -oncogenes
- TCN1: transcobalamin
- C1IN: C1 -esterase inhibitor
- C11orf30: Protein EMSY
- CGRP: Calcitonin Gene - Related Peptide
- PAX6: Pax - 6 gene
- KCNJ1: Renal Outer Medullary Potassium channel
- WT- 1 Wilms tumor suppressor gene
- ApoA-I/-IV/-V/ApoC-III: Apolipoprotein
- L- CPT1: Carnitine acyltransferase system 1
- TRIM5: TRIM5alpha ( tripartite motif )
- DHCR7 :7- dehydrocholesterol reductase
- Insulin
- Insulin-like growth factors (IGF ) gene for insulin -like growth factor 2 (IGF 2)
Medical importance
With the genes located on chromosome 11, inter alia, the following genetic diseases or symptoms are associated:
- Acute intermittent porphyria
- Oculocutaneous albinism type 1
- Aniridia
- Bartter syndrome type II
- Beckwith- Wiedemann syndrome
- Bladder cancer
- Breast cancer
- Denys - Drash syndrome
- Emanuel syndrome
- Focal segmental glomerulosclerosis
- Jacobsen syndrome
- Louis-Bar syndrome
- Nephroblastoma
- Niemann- Pick disease type A B
- Sickle cell anemia
- Smith - Lemli -Opitz syndrome
- Thalassemia
- Papillon -Lefevre syndrome
- Potocki - Shaffer syndrome