AP1B1

Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes (PubMed:31630791). The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

Keratitis-ichthyosis-deafness syndrome, autosomal recessive

KIDAR

An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the adaptor complexes large subunit family.

Widely expressed.

• Golgi apparatus
• Cytoplasmic vesicle
• Clathrin-coated vesicle membrane
• Peripheral membrane protein
• Cytoplasmic side
• Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.

ADTB1, BAM22, CLAPB2, AP1B1, AP-1 complex subunit beta-1, Adaptor protein complex AP-1 subunit beta-1, Adaptor-related protein complex 1 subunit beta-1, Beta-1-adaptin, Beta-adaptin 1, Clathrin assembly protein complex 1 beta large chain, Golgi adaptor HA1/AP1 adaptin beta subunit

• entrezGene:162
• swissprot:Q10567

Proteins

Neuroscience

104637Da