Y6B3B.9

Caenorhabditis elegans

Predicted to enable endonuclease activity. Predicted to be involved in maturation of 5.8S rRNA and maturation of LSU-rRNA. Predicted to be located in nucleus. Predicted to be part of Las1 complex. Human ortholog(s) of this gene implicated in Wilson-Turner syndrome. Is an ortholog of human LAS1L (LAS1 like ribosome biogenesis factor).

Lm1

Mus musculus

PHENOTYPE: This locus controls an antigen present on thymocytes, T lymphoblasts, some plasmacytomas and some myeloid cells. The a allele determines the Lm-1.1 specificity in BALB/c strain; the b allele determines Lm-1.2 in C57BL/6, NZB, C.B-17, C.B-23 and C.B-26. [provided by MGI curators]

Las1l

Homo sapiens

Enables RNA binding activity. Involved in rRNA processing. Located in nucleolus. Part of MLL1 complex. Implicated in Wilson-Turner syndrome. [provided by Alliance of Genome Resources, Apr 2025]

Rps4x

Mus musculus

PHENOTYPE: Rps4x, Ube1x, and Zfx are subject to X-inactivation in mouse but not in human, suggesting that Turner syncrome may be in part due to insufficiency in these gene products. [provided by MGI curators]

Usp9x

Homo sapiens

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Las1l

Rattus norvegicus

Predicted to enable endonuclease activity. Predicted to be involved in maturation of 5.8S rRNA and maturation of LSU-rRNA. Predicted to be located in nucleolus. Predicted to be part of MLL1 complex. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Wilson-Turner syndrome. Orthologous to human LAS1L (LAS1 like ribosome biogenesis factor); INTERACTS WITH 2,4-dinitrotoluene; 2,6-dinitrotoluene; acrylamide.

Efhc2

Homo sapiens

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

HUWE1

Rattus norvegicus

Enables DNA binding activity. Predicted to be involved in several processes, including positive regulation of metabolic process; protein ubiquitination; and regulation of intracellular signal transduction. Located in nucleus. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Turner type. Orthologous to human HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1); PARTICIPATES IN p53 signaling pathway; INTERACTS WITH 2,3,7,8-Tetrachlorodibenzofuran; bisphenol A; flutamide.

shox

Homo sapiens

This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

Hdac8

Rattus norvegicus

Enables chromatin binding activity and deacetylase activity. Involved in several processes, including cellular response to forskolin; cellular response to trichostatin A; and negative regulation of macromolecule metabolic process. Predicted to be located in chromosome; cytoplasm; and nucleus. Biomarker of amphetamine abuse; hypertension; and renovascular hypertension. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 5 and Wilson-Turner syndrome. Orthologous to human HDAC8 (histone deacetylase 8); PARTICIPATES IN histone modification pathway; INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl; 2,4-dinitrotoluene; 2,6-dinitrotoluene.