PTHLH

Chr 12p11.22

parathyroid hormone like hormone

Aliases:: PTHRP, HHM, PLP, PTHR
MANE:: ENST00000545234.6

OMIM: 168470 ↗NCBI: 5744 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PTHLH · P12272

v62025-08-01

Predicted Aligned Error matrix for PTHLH — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.9/ 100

Low

177 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)12%
Low(50–70)50%
Very low(< 50)22%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
VACTERL-like phenotypes

Disease associations (Open Targets)

brachydactyly type E
0.71
Abnormality of the skeletal system
0.47
breast carcinoma
0.44
breast neoplasm
0.40
breast cancer
0.40
androgenetic alopecia
0.39
brachydactyly
0.37
cancer
0.34
open-angle glaucoma
0.34
hereditary disease
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Parathyroid hormone-related protein

Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport (PubMed:12538599, PubMed:35932760, PubMed:3616618). Acts by binding to its receptor, PTH1R, activating G protein-coupled receptor signaling (PubMed:19674967, PubMed:35932760). Regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth (By similarity). Required for skeletal homeostasis (PubMed:12538599). Promotes mammary mesenchyme differentiation and bud outgrowth by modulating mesenchymal cell responsiveness to BMPs (PubMed:12538599). Up-regulates BMPR1A expression in the mammary mesenchyme and this increases the sensitivity of these cells to BMPs and allows them to respond to BMP4 in a paracrine and/or autocrine fashion (By similarity). BMP4 signaling in the mesenchyme, in turn, triggers epithelial outgrowth and augments MSX2 expression, which causes the mammary mesenchyme to inhibit hair follicle formation within the nipple sheath (By similarity). Promotes colon cancer cell migration and invasion in an integrin alpha-6/beta-1-dependent manner through activation of Rac1 (PubMed:20637541)