PTHLH Chromosome 12
Parathyroid hormone like hormone
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What This Gene Does
The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]
Gene Info
Gene Group
"Receptor ligands|Neuropeptides"
Locus Type
gene with protein product
Location
12p11.22
Ensembl
ENSG00000087494
Associated Conditions (2)
Inborn genetic diseases
Brachydactyly type E2
Key Variants
RS753350587
Conflicting classifications of pathogenicity
Health Risk
RS1555124505
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2539971705
Likely pathogenic
Health Risk
RS2539971709
Likely pathogenic
Health Risk
RS1403686641
Pathogenic
Health Risk
RS2062783271
Pathogenic
Health Risk
RS2120631929
Pathogenic
Health Risk
RS2120632984
Pathogenic
Health Risk
RS2120670890
Pathogenic
Brachydactyly type E2, Brachydactyly type E2
Health Risk
RS2539962892
Pathogenic
Health Risk
RS267606985
Pathogenic
Brachydactyly type E2, Brachydactyly type E2
Health Risk
RS267606986
Pathogenic
Brachydactyly type E2, Brachydactyly type E2
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753350587 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555124505 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2539971705 | Health Risk | Likely pathogenic | — |
| RS2539971709 | Health Risk | Likely pathogenic | — |
| RS1403686641 | Health Risk | Pathogenic | — |
| RS2062783271 | Health Risk | Pathogenic | — |
| RS2120631929 | Health Risk | Pathogenic | — |
| RS2120632984 | Health Risk | Pathogenic | — |
| RS2120670890 | Health Risk | Pathogenic | Brachydactyly type E2, Brachydactyly type E2 |
| RS2539962892 | Health Risk | Pathogenic | — |
| RS267606985 | Health Risk | Pathogenic | Brachydactyly type E2, Brachydactyly type E2 |
| RS267606986 | Health Risk | Pathogenic | Brachydactyly type E2, Brachydactyly type E2 |
| RS267606987 | Health Risk | Pathogenic | Brachydactyly type E2, Brachydactyly type E2 |
| RS267606988 | Health Risk | Pathogenic | Brachydactyly type E2, Brachydactyly type E2 |