Brachydactyly type E2

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Parathyroid hormone-related peptide is an analogue to parathyroid hormone coded by the PTHLH gene at 12p12.1-p11.2 which can be switched on in malignancy, it is processed into a number of active peptides:
  1. PTHrP[1-36]
  2. PTHrP[38-94]
  3. Osteostatin (PTHrP[107-139]), is a potent inhibitor of osteoclastic bone resorption.

Amino acids 57 – 68 are important for parathyroid hormone/parathyroid hormone-related peptide receptor binding, and 108 – 129 contain the nuclear localization signal.

These are implicated, indeed they are critical, in regulation of cellular and organ growth, development and epithelial calcium ion transport. Promotes colon cancer cell migration and invasion in an integrin alpha-6/beta-1-dependent manner.

It is secreted by some malignancies and in these cases can be associated with hypercalcaemia.

Defective PTHrp is implicated in brachydactyly type E2 (OMIM:613382) which manifests as shortening of the metacarpals and also of the first and third distal and the second and fifth middle phalanges.

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