Jarvi-Hakola-Nasu Disease

Introduction: Jarvi-Hakola-Nasu Disease

Description of Jarvi-Hakola-Nasu Disease

Jarvi-Hakola-Nasu Disease: Human TYROBP Gene encodes 113-aa 12-kDa (precursor) disulfide-linked homodimeric Tyr-phosphorylated TYRO Protein Tyrosine Kinase Binding Protein, a type I transmembrane polypeptide containing a cytoplasmic ITAM motif that may act as an activating signal transduction element in bone modeling, brain myelination, and inflammation. TYROBP associates with KIR family membrane glycoproteins without a cytoplasmic ITIM; KIR/TYROBP complexes promote cellular activation. TYROBP interacts with SIRPB1 and may bind TCR zeta chain-associated ZAP-70 kinase and SYK tyrosine kinase. (NCI)
Source: Diseases Database

Jarvi-Hakola-Nasu Disease: Related Topics

These medical condition or symptom topics may be relevant to medical information for Jarvi-Hakola-Nasu Disease:

• Human
• Gene
• Precursor
• Disulfide
• Linked
• Tyr
• Protein
• Tyrosine

Terms associated with Jarvi-Hakola-Nasu Disease:

Terms Similar to Jarvi-Hakola-Nasu Disease:

• PLOSL
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Nasu-Hakola disease
• Brain-bone-fat disease

Source: Diseases Database

External links related to: Jarvi-Hakola-Nasu Disease

• GeneReviews: PLOSL
• OMIM - POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL

Source: Diseases Database

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