Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Indian hedgehog protein

The IHH gene encodes a signaling protein which is a member of the hedgehog family. Mutations cause autosomal dominant brachydactyly type A1 and recessive acrocapitofemoral dysplasia.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Acrocapitofemoral dysplasia
IHH
Brachydactyly type A1, A
IHH

References:

1.

Meyer RA et al. (2003) Gene expression in older rats with delayed union of femoral fractures.

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2.

van de Wetering M et al. (2002) The beta-catenin/TCF-4 complex imposes a crypt progenitor phenotype on colorectal cancer cells.

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3.

Chen L et al. (2001) A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.

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4.

Lanske B et al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth.

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5.

Vortkamp A et al. (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein.

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6.

Capurro MI et al. (2008) Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding.

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7.

Hellemans J et al. (2003) Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

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8.

Gao B et al. (2001) Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

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9.

McCready ME et al. (2002) A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

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10.

Kirkpatrick TJ et al. (2003) Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.

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11.

HAWS DV et al. (1963) FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED.

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12.

McCready ME et al. (2005) A century later Farabee has his mutation.

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13.

Liu M et al. (2006) A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

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14.

Zhu G et al. (2007) Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.

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15.

Lodder EM et al. (2008) Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.

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16.

Porter JA et al. (1996) Cholesterol modification of hedgehog signaling proteins in animal development.

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17.

Marigo V et al. (1995) Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog.

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18.

Leek JP et al. (1997) Assignment of Indian hedgehog (IHH) to human chromosome bands 2q33-->q35 by in situ hybridization.

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19.

Hebrok M et al. (2000) Regulation of pancreas development by hedgehog signaling.

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20.

Bienz M et al. (2000) Linking colorectal cancer to Wnt signaling.

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21.

Chung UI et al. (2001) Indian hedgehog couples chondrogenesis to osteogenesis in endochondral bone development.

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22.

Zhang XM et al. (2001) Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R asymmetry by the mouse node.

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23.

Giordano N et al. (2003) Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.

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24.

Gofflot F et al. (2003) Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling.

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25.

Berman DM et al. (2003) Widespread requirement for Hedgehog ligand stimulation in growth of digestive tract tumours.

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26.

van den Brink GR et al. (2004) Indian Hedgehog is an antagonist of Wnt signaling in colonic epithelial cell differentiation.

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27.

Koziel L et al. (2004) Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification.

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28.

Kobayashi T et al. (2005) Indian hedgehog stimulates periarticular chondrocyte differentiation to regulate growth plate length independently of PTHrP.

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29.

Lee K et al. (2006) Indian hedgehog is a major mediator of progesterone signaling in the mouse uterus.

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30.

Maeda Y et al. (2007) Indian Hedgehog produced by postnatal chondrocytes is essential for maintaining a growth plate and trabecular bone.

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31.

Mak KK et al. (2008) Hedgehog signaling in mature osteoblasts regulates bone formation and resorption by controlling PTHrP and RANKL expression.

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32.

McLellan JS et al. (2008) The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla.

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33.

Gao B et al. (2009) A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.

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34.

Byrnes AM et al. (2009) Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

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35.

Lin AC et al. (2009) Modulating hedgehog signaling can attenuate the severity of osteoarthritis.

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36.

Klopocki E et al. (2011) Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

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37.

de la Roche M et al. (2013) Hedgehog signaling controls T cell killing at the immunological synapse.

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38.

Will AJ et al. (2017) Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).

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39.

NCBI article

NCBI 3549 [^]
40.

OMIM.ORG article

Omim 600726 [^]
41.

Orphanet article

Orphanet ID 122605 [^]
42.

Wikipedia article

Wikipedia EN (Indian_hedgehog_(protein)) [^]
Update: April 29, 2019