| Full gene name: | kinesin family member 11 |
|---|---|
| Entrez Gene ID: | 3832 |
| Location: | 10q24.1 |
| Synonyms: | MCLMR, HKSP, TRIP5, KNSL1, EG5 |
| Type: | protein-coding |
SNPs given by the user that are near or inside this gene:
| SNP | Distance (bp) | Direction |
|---|---|---|
| rs1111875 | 47730 | downstream |
This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]
| OMIM ID: | `OMIM ID 148760 `_ |
|---|
Allelic Variants (Selected Examples)
.0001 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
In 4 patients from 2 unrelated families with microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (152950), Ostergaard et al. (2012) identified heterozygosity for a 1159C-T transition in exon 10 of the KIF11 gene, resulting in an arg387-to-ter (R387X) substitution. The mutation segregated with disease in the first family but was found to have arisen de novo in the second family, and was not found in dbSNP, the 1000 Genomes Project, or in 250 controls. The 2 patients from the first family had microcephaly without eye abnormalities, and both had congenital edema: the male patient had minimal edema and mild learning difficulties (LD), whereas the female patient had congenital bilateral lower limb edema, mild LD, and dysmorphic features. The 2 patients from the second family had microcephaly with eye abnormalities but without congenital edema; the female patient had chorioretinopathy and mild LD, whereas the male patient had hypermetropic astigmatism, chorioretinopathy, and moderate LD.
.0002 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
In a male and a female patient from a family with microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (152950), Ostergaard et al. (2012) identified heterozygosity for a 2-bp deletion (1039delCT) in exon 9 of the KIF11 gene, predicted to cause a frameshift and premature termination codon. The mutation segregated with disease in the family and was not found in dbSNP, the 1000 Genomes Project, or in 250 controls. Both patients had microcephaly. Whereas the male patient had only mild learning difficulties (LD) without lymphedema or eye abnormalities, the female patient, who had more severe microcephaly, had congenital bilateral lower limb edema and pleural effusions, hypermetropic astigmatism and chorioretinopathy, and LD.
.0003 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
In a male patient with microcephaly, bilateral chorioretinopathy, congenital bilateral lymphedema of the lower limbs, and mild learning difficulties (152950), originally reported by Vasudevan et al. (2005), Ostergaard et al. (2012) identified heterozygosity for a de novo 2830C-T transition in exon 3 of the KIF11 gene, resulting in an arg944-to-cys (R944C) substitution at a highly conserved residue within the bimC box in the C-terminal tail. The mutation was not found in dbSNP, the 1000 Genomes Project, or in 250 controls.
.0004 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
In 2 related patients who had microcephaly without mental retardation but with variable presence of chorioretinopathy and lymphedema (152950), Ostergaard et al. (2012) identified heterozygosity for a 1-bp deletion (1592delA) in exon 13 of the KIF11 gene, predicted to cause a frameshift and premature termination codon. The mutation segregated with disease in the family and was not found in dbSNP, the 1000 Genomes Project, or in 250 controls. Neither patient had learning difficulties. Whereas the female patient exhibited only microcephaly, the male patient also had congenital bilateral lower limb edema, bilateral chorioretinopathy, atrial septal defect, and dysmorphic features.
.0005 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
In 3 sibs, their mother, and their maternal grandfather, who had microcephaly without eye abnormalities but with variable presence of congenital lymphedema and/or mental retardation (152950), Ostergaard et al. (2012) identified heterozygosity for a 2547+2T-C transition in intron 18 of the KIF11 gene, predicted to cause premature truncation. The mutation segregated with disease in the family and was not found in dbSNP, the 1000 Genomes Project, or in 250 controls. Two of the patients had mild lymphedema of the hands in addition to congenital bilateral lymphedema of the lower extremities.
.0006 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
In 2 related female patients with microcephaly and bilateral chorioretinopathy (152950), Ostergaard et al. (2012) identified heterozygosity for a 704C-G transversion in exon 7 of the KIF11 gene, resulting in a ser235-to-cys (S235C) substitution at a highly conserved residue within the motor domain. The mutation segregated with disease in the family and was not found in dbSNP, the 1000 Genomes Project, or in 250 controls. Neither patient had lymphedema, and only 1 of them had learning difficulties.
No pathways found linked to this gene.
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