Tyrosine-protein kinase transmembrane receptor ROR2, also known as neurotrophic tyrosine kinase, receptor-related 2, is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''ROR2''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
located on position 9 of the long arm of
chromosome 9
Chromosome 9 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of D ...
.
This protein is responsible for aspects of
bone
A bone is a rigid organ that constitutes part of the skeleton in most vertebrate animals. Bones protect the various other organs of the body, produce red and white blood cells, store minerals, provide structure and support for the body, ...
and
cartilage growth. It is involved in
Robinow syndrome
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist ...
and autosomal dominant
brachydactyly type B. ROR2 is a member of the
receptor tyrosine kinase-like orphan receptor
In the field of molecular biology, receptor tyrosine kinase-like orphan receptors (RORs) are a family of tyrosine kinase receptors that are important in regulating skeletal and neuronal development, cell migration and cell polarity. ROR proteins ...
(ROR) family.
Function
The protein encoded by this gene is a
receptor tyrosine kinase
Receptor tyrosine kinases (RTKs) are the high- affinity cell surface receptors for many polypeptide growth factors, cytokines, and hormones. Of the 90 unique tyrosine kinase genes identified in the human genome, 58 encode receptor tyrosine kin ...
and type I
transmembrane protein
A transmembrane protein (TP) is a type of integral membrane protein that spans the entirety of the cell membrane. Many transmembrane proteins function as gateways to permit the transport of specific substances across the membrane. They frequent ...
that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development.
Clinical significance
Mutations in this gene can cause
brachydactyly type B, a skeletal disorder characterized by
hypoplasia/
aplasia
Aplasia (; from Greek ''a'', "not", "no" + ''plasis'', "formation") is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process.
Aplastic anemia is the failure of the body to produc ...
of distal
phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of
Robinow syndrome
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist ...
, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine,
brachydactyly
Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means "short finger". The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an in ...
, and a dysmorphic facial appearance.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on ROR2-Related Robinow Syndrome*
{{DEFAULTSORT:Ror2
Tyrosine kinase receptors