Gene: OBSL1

Alternate names for this Gene: -

Gene Summary: Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: obscurin like cytoskeletal adaptor 1

Type of Gene: protein-coding

rs35009641 in OBSL1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1559155954 in OBSL1 gene and Clinodactyly of the 5th finger PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155800 in OBSL1 gene and Delayed bone age PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155800 in OBSL1 gene and Enlarged thorax PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155954 in OBSL1 gene and Frontal bossing PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Joint hyperflexibility PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155954 in OBSL1 gene and Long narrow head PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155954 in OBSL1 gene and Long philtrum PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Lordosis PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155800 in OBSL1 gene and Miller-McKusick-Malvaux-Syndrome (3M Syndrome) PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155954 in OBSL1 gene and Pointed chin PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Short neck PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155800 in OBSL1 gene and Short stature PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155800 in OBSL1 gene and Short thorax PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155800 in OBSL1 gene and Slender long bone PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs762334954 in OBSL1 gene and Three M Syndrome 2 PMID 19481195 2009 The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

PMID 19877176 2010 OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.

PMID 25923536 2015 Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.

rs1559155800 in OBSL1 gene and Triangular face PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.