Entity Details
Primary name |
PTHR_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | P12272 |
EntryName | PTHR_HUMAN |
FullName | Parathyroid hormone-related protein |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 177 |
SequenceStatus | complete |
DateCreated | 1989-10-01 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Cytoplasm |
Nucleus |
Secreted |
Domains
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Domain | Name | Category | Type |
IPR001415 | Parathyroid hormone/parathyroid hormone-related protein | Family | Family |
IPR003626 | Parathyroid hormone-related protein | Family | Family |
Diseases
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Disease ID | Source | Name | Description |
613382 | OMIM | Brachydactyly E2 (BDE2) | A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
6 interactions