GFER Chromosome 16
Growth factor, augmenter of liver regeneration
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What This Gene Does
The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000127554
Associated Conditions (4)
Inborn genetic diseases
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
GFER-related disorder
Mitochondrial disease
Key Variants
RS183638147
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199541169
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Inborn genetic diseases
Health Risk
RS28738719
Conflicting classifications of pathogenicity
GFER-related disorder, GFER-related disorder
Health Risk
RS375792737
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, GFER-related disorder
Health Risk
RS755279097
Conflicting classifications of pathogenicity
Health Risk
RS771809901
Conflicting classifications of pathogenicity
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Health Risk
RS780851934
Conflicting classifications of pathogenicity
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Health Risk
RS863224028
Conflicting classifications of pathogenicity
Mitochondrial disease, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Mitochondrial disease
Health Risk
RS1028553365
Likely pathogenic
Health Risk
RS1597063303
Likely pathogenic
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Health Risk
RS201762532
Likely pathogenic
Health Risk
RS121908192
Pathogenic
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Inborn genetic diseases, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS183638147 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199541169 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Inborn genetic diseases |
| RS28738719 | Health Risk | Conflicting classifications of pathogenicity | GFER-related disorder, GFER-related disorder |
| RS375792737 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, GFER-related disorder |
| RS755279097 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771809901 | Health Risk | Conflicting classifications of pathogenicity | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
| RS780851934 | Health Risk | Conflicting classifications of pathogenicity | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
| RS863224028 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial disease, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Mitochondrial disease |
| RS1028553365 | Health Risk | Likely pathogenic | — |
| RS1597063303 | Health Risk | Likely pathogenic | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
| RS201762532 | Health Risk | Likely pathogenic | — |
| RS121908192 | Health Risk | Pathogenic | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Inborn genetic diseases, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
| RS1363034255 | Health Risk | Pathogenic | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
| RS1555486560 | Health Risk | Pathogenic | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
| RS373135339 | Health Risk | Pathogenic | Inborn genetic diseases, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Inborn genetic diseases |
| RS1597063051 | Health Risk | Pathogenic/Likely pathogenic | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |