TYRO
protein tyrosine kinase
A tyrosine kinase is an enzyme that can transfer a phosphate group from ATP to the tyrosine residues of specific proteins inside a cell. It functions as an "on" or "off" switch in many cellular functions.
Tyrosine kinases belong to a larger cla ...
-binding protein is an adapter protein that in humans is encoded by the ''TYROBP''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
This gene encodes a transmembrane signaling polypeptide which contains an
immunoreceptor tyrosine-based activation motif An immunoreceptor tyrosine-based activation motif (ITAM) is a conserved sequence of four amino acids that is repeated twice in the cytoplasmic tails of non-catalytic tyrosine-phosphorylated receptors, cell-surface proteins found mainly on immune ce ...
(ITAM) in its cytoplasmic domain. The encoded protein may associate with the
killer cell immunoglobulin-like receptor
Killer-cell immunoglobulin-like receptors (KIRs), are a family of type I transmembrane glycoproteins expressed on the plasma membrane of natural killer (NK) cells and a minority of T cells. In humans, they are encoded in the leukocyte receptor co ...
(KIR) family of membrane glycoproteins and may act as an activating
signal transduction
Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a biochemical cascade, series of molecular events. Proteins responsible for detecting stimuli are generally termed receptor (biology), rece ...
element. This protein may bind zeta-chain associated protein kinase 70 kDa (
ZAP-70
ZAP-70 (Zeta-chain-associated protein kinase 70) is a protein normally expressed near the surface membrane of Lymphocyte, lymphocytes (T cells, natural killer cells, and a subset of B cell, B cells). It is most prominently known to be recruited u ...
) and
spleen tyrosine kinase (SYK) and play a role in signal transduction,
bone modeling
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 ...
, brain
myelination
Myelination, or myelinogenesis, is the formation and development of myelin sheaths in the nervous system, typically initiated in late prenatal neurodevelopment and continuing throughout postnatal development. The term ''myelinogenesis'' is also ...
, and
inflammation
Inflammation (from ) is part of the biological response of body tissues to harmful stimuli, such as pathogens, damaged cells, or irritants. The five cardinal signs are heat, pain, redness, swelling, and loss of function (Latin ''calor'', '' ...
. Mutations within this gene have been associated with
(PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (
TREM2
Triggering receptor expressed on myeloid cells 2 (TREM2) is a protein that in humans is encoded by the ''TREM2'' gene. TREM2 is expressed on macrophages, immature monocyte-derived dendritic cells, osteoclasts, and microglia, which are immune cells ...
), also causes PLOSL. Two alternative transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described, but their full-length nature has not been determined.
Interactions
TYROBP has been shown to
interact with
SIRPB1
Signal-regulatory protein beta-1 is a protein that in humans is encoded by the ''SIRPB1'' gene. SIRPB1 has also recently been designated CD172B (cluster of differentiation 172B).
The protein encoded by this gene is a member of the signal-regulat ...
.
Clinical significance
Pathological mutations of the TYROBP gene cause
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, a condition presenting as
early-onset dementia.
References
External links
GeneReviews/NIH/NCBI/UW entry on Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)
Further reading
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