ADAMTS2 Gene … Normal Function

The ADAMTS2 gene provides instructions for making an enzyme that processes several types of ‘pro-collagen molecules’. We already discussed that ‘Procollagens’ are the precursors of collagens — which are complex molecules that add strength, support and elasticity (the ability to stretch) to many body tissues.

Specifically, the ADAMTS2 enzyme clips a short chain of protein building blocks (amino acids) of one end of procollagens. This clipping step is necessary for the collagen molecules to assemble into strong, slender fibrils outside cells.

Source: www.ghr.nlm.nih.gov

ADAMTS2 Gene … Location

Cytogenetic Location      :      5qter

Molecular Location         :      Chromosome 5

Base pairs (Bp) 178,537,851 - 178,772,430

The ADAMTS2 gene is located on the long (q) arm of ‘chromosome 5’ at the end (terminus) of the arm, more precisely, from BP 178,537,851 ~ 178,772,430 on chromosome 5.

Source: www.ghr.nlm.nih.gov

ADAMTS2 Gene ..... Official Name

ADAMTS2 gene is responsible for 'Dermatosparaxis Types' of Ehlers-Danlos syndrome (EDS)

Official Name        :      ADAM metallopeptidase with thrombospondin type 1 motif, 2

Official Symbol      :      ADAMTS2 

Other names of ADAMTS2 Gene

@ ADAM-TS2

@ A disintegrin and metalloproteinase with thrombospondin motifs 2

@ ATS2_HUMAN

@ hPCPNI

@ NPI

@ PCINP

@ PCPNI

@ pNPI

@ Procollagen I/II amino-propeptide processing enzyme

@ procollagen I N-proteinase

@ Procollagen N-endopeptidase

 Source: www.ghr.nlm.nih.gov

How COL1A2 Gene Cause EDS?

Several mutations in the COL1A2 gene are responsible for the ‘Arthrochalasia Type’ of Ehlers-Danlos Syndrome (EDS). These mutations, which affect one copy of the COL1A2 gene in each cell, delete a segment of the pro-α2 (I) chain that attaches one collagen molecule to another. The absence of this important segment prevents the normal assembly of type I collagen fibrils and alters the cross-linking between collagen molecules. These changes mainly affect tissues that are rich in type I collagen, such as the skin, bones, and tendons.

Rarely, mutations in both copies of the COL1A2 gene in each cell have been reported in people with the characteristic features of Ehlers-Danlos syndrome. These mutations prevent cells from producing any normal pro-α2 (I) chains. As a result, type I collagen fibrils in the skin and other tissues cannot be assembled correctly. The presence of abnormal collagen is associated with a variety of signs and symptoms, including loose joints, cardiac problems and other complications associated with Ehlers-Danlos syndrome.

Source: www.ghr.nlm.nih.gov

COL1A2 Gene … Normal Function

The COL1A2 gene provides instructions for making ‘type I collagen’. In my earlier post I already discussed about the Collagens — Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Type I collagen is the most abundant form of collagen in the human body.

The COL1A2 gene produces pro-α2 (I) chain in type I collagen.

I discussed in my COL1A1 post that ‘Collagens’ begin as procollagen molecules, which must be processed by enzymes outside the cell to remove extra protein segments from their ends. Each rope-like procollagen molecule is made up of 3 chains: 2 pro-α1(I) chains, produced from the COL1A1 gene, and 1 pro-α2(I) chain, produced from the COL1A2 gene.

After procollagens are processed, the resulting mature collagen molecules arrange themselves into long, thin fibrils. Individual collagen molecules are cross-linked to one another within these fibrils. The formation of cross-links results in very strong ‘type I’ collagen fibrils, which are found in the spaces around cells.

Source: www.ghr.nlm.nih.gov

COL1A2 Gene … Location

Cytogenetic Location      :      7q22.1

Molecular Location         :      Chromosome 7

Base pairs (Bp) 94,023,872 - 94,060,543

The COL1A2 gene is located on the long (q) arm of ‘chromosome 7’ at position 22.1, more precisely, from BP 94,023,872 ~ 94,060,543 on chromosome 7.

Source: www.ghr.nlm.nih.gov

COL1A2 ... Official Name

Like COL1A1, COL1A2 gene also responsible for 'Arthrochalasia Types' of Ehlers-Danlos syndrome (EDS)

Official Name

Official Name        :      collagen, type I, alpha 2

Official Symbol      :      COL1A2

Other names of COL5A2 Gene

@ alpha 2 collagen type I

@ CO1A2_HUMAN

@ Collagen I, alpha-2 polypeptide

@ Collagen of skin, tendon and bone, alpha-2 chain

Source: www.ghr.nlm.nih.gov

How COL1A1 Gene Cause EDS?

Several mutations in the COL1A1 gene are responsible for the ‘Arthrochalasia Type’ of Ehlers-Danlos Syndrome (EDS). These genetic changes lead to the production of defective pro-α1 (I) chain with missing a critical segment. The absence of this segment interferes with the assembly and structure of type I collagen molecules and the processing of these molecules into collagen fibrils.

Tissues that are rich in type I collagen — such as the skin, bones, and tendons are most affected by this change.

A mutation in the COL1A1 gene has also been shown to cause the ‘Classic Type’ of Ehlers-Danlos syndrome. This mutation changes one of the amino acids used to build the pro-α1 (I) chain. Specifically, this genetic change replaces the amino acid ‘arginine’ with the amino acid ‘cysteine’ at position 134. The altered protein interferes with other collagen-building proteins, disrupting the structure of type I collagen fibrils and trapping collagen in the cell. But researchers believe that this COL1A1 mutation only rarely underlies the signs and symptoms of classic Ehlers-Danlos syndrome.

Source: www.ghr.nlm.nih.gov 

COL1A1 Gene … Normal Function

The COL1A1 gene provides instructions for making ‘type I collagen’. In my earlier post I already discussed about the Collagens — Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Type I collagen is the most abundant form of collagen in the human body.

The COL1A1 gene produces pro-α1 (I) chain in type I collagen.

Collagens begin as procollagen molecules, which must be processed by enzymes outside the cell to remove extra protein segments from their ends. Each rope-like procollagen molecule is made up of 3 chains: 2 pro-α1(I) chains, produced from the COL1A1 gene, and 1 pro-α2(I) chain, produced from the COL1A2 gene. After procollagens are processed, the resulting mature collagen molecules arrange themselves into long, thin fibrils. Individual collagen molecules are cross-linked to one another within these fibrils. The formation of cross-links results in very strong type I collagen fibrils, which are found in the spaces around cells.

Source: www.ghr.nlm.nih.gov

COL1A1 Gene … Location

Cytogenetic Location      :      17q21.33

Molecular Location         :      Chromosome 17    

Base pairs (Bp) 48,261,456 - 48,278,999

The COL1A1 gene is located on the long (q) arm of ‘chromosome 17’ at position 21.33, more precisely, from BP 48,261,456 ~ 48,278,999 on chromosome 17.

Source: www.ghr.nlm.nih.gov

COL1A1 Gene ..... Official name

COL1A1 gene is responsible for 'Arthrochalasia Types' of Ehlers-Danlos syndrome (EDS)

Official Name        :      collagen, type I, alpha 1

Official Symbol      :      COL1A1

Other names of COL5A2 Gene

@ alpha 1 type I collagen preproprotein

@ CO1A1_HUMAN

@ COL1A1 protein

@ Collagen I, alpha-1 polypeptide

@ collagen of skin, tendon and bone, alpha-1 chain

@ type I collagen alpha 1

Source: www.ghr.nlm.nih.gov