AEBP1 Chromosome 7
AE binding protein 1
Upload your DNA to see your personal genotypes for variants in AEBP1.
What This Gene Does
This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"M14 carboxypeptidases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
7p13
Ensembl
ENSG00000106624
Associated Conditions (8)
Inborn genetic diseases
AEBP1-related disorder
Ehlers-Danlos syndrome
classic type
1
classic-like
2
Autism spectrum disorder
Key Variants
RS141126404
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201065802
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368973524
Conflicting classifications of pathogenicity
AEBP1-related disorder, AEBP1-related disorder
Health Risk
RS376019197
Conflicting classifications of pathogenicity
Health Risk
RS75107445
Conflicting classifications of pathogenicity
AEBP1-related disorder, AEBP1-related disorder
Health Risk
RS75175945
Conflicting classifications of pathogenicity
Health Risk
RS753531562
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS763077790
Conflicting classifications of pathogenicity
Health Risk
RS770411493
Conflicting classifications of pathogenicity
Health Risk
RS779995818
Conflicting classifications of pathogenicity
Health Risk
RS112082668
Likely pathogenic
AEBP1-related disorder, Ehlers-Danlos syndrome, classic-like
Health Risk
RS145586647
Likely pathogenic
Autism spectrum disorder, Ehlers-Danlos syndrome, classic-like
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141126404 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201065802 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368973524 | Health Risk | Conflicting classifications of pathogenicity | AEBP1-related disorder, AEBP1-related disorder |
| RS376019197 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS75107445 | Health Risk | Conflicting classifications of pathogenicity | AEBP1-related disorder, AEBP1-related disorder |
| RS75175945 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753531562 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS763077790 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770411493 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779995818 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS112082668 | Health Risk | Likely pathogenic | AEBP1-related disorder, Ehlers-Danlos syndrome, classic-like |
| RS145586647 | Health Risk | Likely pathogenic | Autism spectrum disorder, Ehlers-Danlos syndrome, classic-like |
| RS2096224408 | Health Risk | Likely pathogenic | — |
| RS2096231961 | Health Risk | Likely pathogenic | — |
| RS2484341342 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |
| RS2484357529 | Health Risk | Likely pathogenic | — |
| RS752899698 | Health Risk | Likely pathogenic | — |
| RS757944511 | Health Risk | Likely pathogenic | — |
| RS766250601 | Health Risk | Likely pathogenic | — |
| RS112298043 | Health Risk | Pathogenic | — |
| RS1168034376 | Health Risk | Pathogenic | — |
| RS1173771882 | Health Risk | Pathogenic | — |
| RS1216272084 | Health Risk | Pathogenic | — |
| RS1367905743 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |
| RS1443187318 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |
| RS1479880253 | Health Risk | Pathogenic | — |
| RS1554327284 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |
| RS1554327449 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |
| RS2096226168 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |
| RS2096232673 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |
| RS2484351488 | Health Risk | Pathogenic | — |
| RS2484355096 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |
| RS2484356584 | Health Risk | Pathogenic | — |
| RS2484356955 | Health Risk | Pathogenic | — |
| RS2484359175 | Health Risk | Pathogenic | — |
| RS2484360667 | Health Risk | Pathogenic | — |
| RS2484361735 | Health Risk | Pathogenic | — |
| RS369016031 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |
| RS1477494152 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |
| RS773274347 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS775886011 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS777647845 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, classic-like, 2 |