TLCD3B

TLC domain containing 3B

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000149926
UniProt:: Q71RH2
OMIM:: 615175
Synonyms:: DKFZP434I2117, FAM57B

Phenotypes

Mouse phenotype:: decreased prepulse inhibition, decreased total reti thickness, abnormal reti outer nuclear layer morphology, decreased startle reflex, decreased body length

Ciliopathy associations

Cone-Rod Dystrophy

References: PMID:33077892

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

Ciliary assembly/disassembly

Function

Mutations in the TLCD3B gene cause Cone-Rod Dystrophy (PMID: 33077892).

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