Disease related genes, Human disease related genes
Intracellular
Cell type enhanced (Rod photoreceptor cells, Cone photoreceptor cells, Inhibitory neurons, Excitatory neurons)
Low immune cell specificity
Low cell line specificity
Self-associates (PubMed:23532844). Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1. Interacts with NPHP1; probably as heterodimers and/or AHI1(2):NPHP1(2) heterotetramers. Interacts (via SH3 domain) with the dynamin GTPase DNM2. Interacts with HAP1; probably as AHI1(2):HAP1(2) heterotetramers. Interacts with RAB8A (By similarity). Interacts with CEND1 (By similarity). Interacts with CTNNB1/beta-catenin (PubMed:21623382). Interacts with SPATA7 (By similarity).
Developmental protein
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For Research Use Only. Not For Clinical Use.