LAMA1

laminin subunit alpha 1

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000101680
UniProt:
P25391
OMIM:
150320
Synonyms:
LAMA

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.06) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased exploration in new environment, preweaning lethality, complete penetrance, increased startle reflex
Human ciliopathy phenotype:
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome; Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:34423300

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Cardiac & muscle development

Function

Mutations in the LAMA1 gene cause Joubert Syndrome (PMID: 34423300).