POMGNT1

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000085998
UniProt:: Q8WZA1
OMIM:: 606822
Synonyms:: FLJ20277, LGMD2O, MEB, MGAT1.2

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; retinitis pigmentosa 76; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Subcellular localization

basal body

References: PMID:26908613

Functional category

Ciliary assembly/disassembly
Signaling (Hedgehog, GPCRs, ion channels)

Function

POMGNT1 is specifically expressed in photoreceptor basal body (26908613).

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