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Immunogen sequence: ERDSTIFGIR GKKLHFSSSY AHKASSIAKS SSFCSMERDE EDSIIVSEGI IEEYLAFDHI DIEEG
Highest antigen sequence identity to the following orthologs: Mouse - 68%, Rat - 71%.
Involved in cilium assembly and protein localization to cilium. Predicted to be located in cilium. Implicated in Joubert syndrome. FAM149B1 (Family With Sequence Similarity 149 Member B1) is a Protein Coding gene. Diseases associated with FAM149B1 include Joubert Syndrome 36 and Orofaciodigital Syndrome Vi. An important paralog of this gene is FAM149A. Involved in the localization of proteins to the cilium and cilium assembly. Indirectly regulates the signaling functions of the cilium, being required for normal SHH/smoothened signaling and proper development.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: family with sequence similarity 149, member B1; Primary cilium assembly protein FAM149B1
Gene Aliases: FAM149B1; KIAA0974
UniProt ID: (Human) Q96BN6
Entrez Gene ID: (Human) 317662
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