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Immunogen sequence: DDKLLMRPGS STILSTRNWP NRAVEFSTSS LSYTVQSTRR RNPPPRTLHP ISTSHSCAET PRSVEEILRG ARVPVAPDSL SSPSP
Highest antigen sequence identity to the following orthologs: Mouse - 81%, Rat - 79%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: family with sequence similarity 149, member B1; Primary cilium assembly protein FAM149B1
基因别名: FAM149B1; KIAA0974
UniProt ID: (Human) Q96BN6
Entrez Gene ID: (Human) 317662