protein broad-minded isoform X3 [Homo sapiens]

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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa. [JCI Insight. 2023]
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, et al. JCI Insight. 2023 Nov 8; 8(21). Epub 2023 Nov 8.
Confirming TBC1D32-related ciliopathy in humans. [Am J Med Genet A. 2020]
Confirming TBC1D32-related ciliopathy in humans.
Alsahan N, Alkuraya FS. Am J Med Genet A. 2020 Aug; 182(8):1985-1987. Epub 2020 Jun 23.
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. [Am J Hum Genet. 2019]
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Shaheen R, Jiang N, Alzahrani F, Ewida N, Al-Sheddi T, Alobeid E, Musaev D, Stanley V, Hashem M, Ibrahim N, et al. Am J Hum Genet. 2019 Apr 4; 104(4):731-737. Epub 2019 Mar 21.

RefSeq genomic sequence
See the genomic reference sequence for the TBC1D32 gene (NG_034203.1).
RefSeq mRNA
See reference mRNA sequence for the TBC1D32 gene (XM_054354532.1).

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Protein