TBC1D32

Chr 6

TBC1 domain family member 32

Also known as: ALHSA, BROMI, C6orf170, C6orf171, OFD9, RP100

NCBI Gene: 221322 ENSG00000146350 UniProt: Q96NH3

This protein is required for high-level sonic hedgehog responses in the developing neural tube and controls primary cilium structure by coordinating assembly of the ciliary membrane and axoneme. Mutations cause autosomal recessive ciliopathies including Alsahan-Harris syndrome, orofaciodigital syndrome IX, and retinitis pigmentosa 100. These conditions primarily affect craniofacial development, limb formation, and retinal function due to disrupted ciliary signaling pathways.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOrofaciodigital syndrome 9

UniProtRetinitis pigmentosa 100

UniProtAlsahan-Harris syndrome

Clinical highlights

Gene-disease validity (ClinGen)

ciliopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TBC1D32