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Ankyrin repeat domain-containing protein 50 (ANKRD50)
- Target
- ANKRD50
- Molecular classification
- Other (Ankyrin repeat family; scaffold/adaptor protein; not a receptor, enzyme, channel, transporter, or transcription factor)
01
Overview
Ankyrin repeat domain-containing protein 50 (ANKRD50) is characterized by its ankyrin repeat domains, which fold into stable, L-shaped structures that facilitate protein-protein interactions[2]. ANKRD50 participates in the trafficking and recycling of proteins between endosomes and the plasma membrane, being critical for the regulation of SNX27-retromer-dependent cargo such as the glucose transporter GLUT1[3]. Defects or mutations in ANKRD50 have been associated with autosomal recessive intellectual disability and immunodeficiency syndromes[3]. Based on current data, it is not classified as a receptor, enzyme, ion channel, or direct pharmacological target, but rather as a scaffold/adaptor protein within the ankyrin repeat family[1][2][3][4].
- Other names
- ankyrin repeat domain-containing protein 50ANKRD50KIAA1223ankyrin repeat domain 50LOC684329LOC688861mKIAA1223mKIAA3019E430012K20RikRGD1311665
02
Mechanism of action
null
03
Biological functions
Protein-protein interactions (scaffold/adaptor)Endosome-to-plasma membrane traffickingEndocytic recycling
04
Disease associations
Intellectual developmental disorder, autosomal recessive 43Immunodeficiency 72
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