Gene: KLHL40

Alternate names for this Gene: KBTBD5|NEM8|SRYP|SYRP

Gene Summary: This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish.

Gene is located in Chromosome: 3

Location in Chromosome : 3p22.1

Description of this Gene: kelch like family member 40

Type of Gene: protein-coding

rs123509 in KLHL40 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs1186218257 in KLHL40 gene and NEMALINE MYOPATHY 8 PMID 23746549 2013 Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

PMID 26754003 2016 KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

PMID 27762439 2016 Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.

PMID 27528495 2016 Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).