ALG9

ALG9 alpha-1,2-mannosyltransferase

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000086848
UniProt:
Q9H6U8
OMIM:
606941
Synonyms:
DIBD1

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.67) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
abnormal locomotor behavior, abnormal coat/hair pigmentation, increased total body fat amount, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage
Human ciliopathy phenotype:
Autosomal dominant polycystic kidney disease; ALG9-associated autosomal dominant polycystic kidney disease

Ciliopathy associations

  • Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Liver Disease

References: PMID:31395617

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the ALG9 gene cause Autosomal Dominant Polycystic Kidney Disease (PMID: 31395617).