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Mks1 - Meckel syndrome, type 1

Involved in axoneme assembly; ciliary transition zone assembly; and non-motile cilium assembly. Located in ciliary cap and ciliary transition zone. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1). [provided by Alliance of Genome Resources, Nov 2024]

NCBI Orthologs

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Species Gene Architecture aa