VPS4A Chromosome 16
Vacuolar protein sorting 4 homolog A
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What This Gene Does
The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"AAA ATPases|ESCRT-IV"
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000132612
Associated Conditions (2)
Syndromic congenital hemolytic and dyserythropoietic anemia
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Key Variants
RS1965431981
Likely pathogenic
Syndromic congenital hemolytic and dyserythropoietic anemia, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, Syndromic congenital hemolytic and dyserythropoietic anemia
Health Risk
RS1965484288
Pathogenic
Syndromic congenital hemolytic and dyserythropoietic anemia, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, Syndromic congenital hemolytic and dyserythropoietic anemia
Health Risk
RS1965484443
Pathogenic
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Health Risk
RS1965499910
Pathogenic
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, Syndromic congenital hemolytic and dyserythropoietic anemia, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1965431981 | Health Risk | Likely pathogenic | Syndromic congenital hemolytic and dyserythropoietic anemia, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, Syndromic congenital hemolytic and dyserythropoietic anemia |
| RS1965484288 | Health Risk | Pathogenic | Syndromic congenital hemolytic and dyserythropoietic anemia, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, Syndromic congenital hemolytic and dyserythropoietic anemia |
| RS1965484443 | Health Risk | Pathogenic | Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome |
| RS1965499910 | Health Risk | Pathogenic | Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, Syndromic congenital hemolytic and dyserythropoietic anemia, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome |