MLH1

mutL homolog 1

Ensembl:
ENSG00000076242
UniProt:
P40692
OMIM:
120436
Synonyms:
COCA2, FCC2, HNPCC, HNPCC2, MLH-1

Cilia effects upon perturbation of MLH1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect 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:
increased spleen weight
Mouse ciliopathy phenotype:
small testis, male infertility, increased circulating alanine transamise level, cataract, increased circulating aspartate transamise level

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • T cell biology
  • Reproduction & sperm

Function

Mlh1 co-localized with α-tubulin sig l around separating micronuclei during the crescent stage ( 29095884)