Gene: LRRC14

Alternate names for this Gene: LRRC14A

Gene Summary: This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: leucine rich repeat containing 14

Type of Gene: protein-coding

Gene: RECQL4

Alternate names for this Gene: RECQ4

Gene Summary: The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: RecQ like helicase 4

Type of Gene: protein-coding

rs1050860620 in LRRC14;RECQL4 gene and Baller-Gerold syndrome PMID 12734318 2003 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

PMID 12952869 2003 Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

rs3757966 in LRRC14;RECQL4 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3757966 in LRRC14;RECQL4 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.