FAM111A Chromosome 11
FAM111 trypsin like peptidase A
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What This Gene Does
The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Associated Conditions (6)
FAM111A-related disorder
See cases
Inborn genetic diseases
Osteocraniostenosis
Autosomal dominant Kenny-Caffey syndrome
Skeletal dysplasia
Key Variants
RS1298422871
Conflicting classifications of pathogenicity
FAM111A-related disorder, See cases, FAM111A-related disorder
Health Risk
RS140306279
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142539088
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147361273
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149508004
Conflicting classifications of pathogenicity
FAM111A-related disorder, FAM111A-related disorder
Health Risk
RS187676082
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2496296355
Conflicting classifications of pathogenicity
Inborn genetic diseases, Osteocraniostenosis, Autosomal dominant Kenny-Caffey syndrome
Health Risk
RS376721381
Conflicting classifications of pathogenicity
Skeletal dysplasia, Skeletal dysplasia
Health Risk
RS574553791
Conflicting classifications of pathogenicity
Health Risk
RS587777012
Conflicting classifications of pathogenicity
Autosomal dominant Kenny-Caffey syndrome, Autosomal dominant Kenny-Caffey syndrome
Health Risk
RS748812251
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749677037
Conflicting classifications of pathogenicity
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1298422871 | Health Risk | Conflicting classifications of pathogenicity | FAM111A-related disorder, See cases, FAM111A-related disorder |
| RS140306279 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142539088 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147361273 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149508004 | Health Risk | Conflicting classifications of pathogenicity | FAM111A-related disorder, FAM111A-related disorder |
| RS187676082 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2496296355 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Osteocraniostenosis, Autosomal dominant Kenny-Caffey syndrome |
| RS376721381 | Health Risk | Conflicting classifications of pathogenicity | Skeletal dysplasia, Skeletal dysplasia |
| RS574553791 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777012 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Kenny-Caffey syndrome, Autosomal dominant Kenny-Caffey syndrome |
| RS748812251 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749677037 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759624749 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761191576 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762116864 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778780878 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS944930983 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145826377 | Health Risk | Likely pathogenic | Osteocraniostenosis, Osteocraniostenosis |
| RS2135489647 | Health Risk | Likely pathogenic | — |
| RS587777015 | Health Risk | Pathogenic | Osteocraniostenosis, Osteocraniostenosis |
| RS1565206032 | Health Risk | Pathogenic/Likely pathogenic | Osteocraniostenosis, Autosomal dominant Kenny-Caffey syndrome, Osteocraniostenosis |
| RS587777011 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant Kenny-Caffey syndrome, Osteocraniostenosis, Inborn genetic diseases |
| RS587777013 | Health Risk | Pathogenic/Likely pathogenic | Osteocraniostenosis, Osteocraniostenosis |
| RS587777014 | Health Risk | Pathogenic/Likely pathogenic | Osteocraniostenosis, Osteocraniostenosis |