Hedgehog Homolog, Indian (IHH)

BDA1; HHG2

SPN	T668
HGNC	5956
MGI	96533
PubMed	19793350
RGD	620021
UniProt	Q14623
Wiki	IHH

IHH is one of three proteins in the mammalian hedgehog family, the others being desert hedgehog (DHH) and Sonic hedgehog (SHH). It is involved in chondrocyte differentiation, proliferation and maturation especially during endochondral ossification. It regulates its effects by feedback control of parathyroid hormone-related peptide (PTHrP).Gao et al. (2001) decided to focus on IHH as the gene implicated in brachydactyly type A1 because of its position in the implicated interval on chromosome 2q35-q36 flanked by markers D2S2248 and D2S360 and becauseIHH is known to mediate condensation, growth, and differentiation of cartilage. They identified 3 heterozygous missense mutations in the region encoding the amino-terminal signaling domain in all affected members of 3 large, unrelated Chinese families.

Reference

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Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

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J. Biol. Chem. 285:24584-24590(2010) [PubMed] [Europe PMC] [Abstract]

"Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels."
Cell Res. 21:1343-1357(2011) [PubMed] [Europe PMC] [Abstract]

"Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1."
Nat. Genet. 28:386-388(2001) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved."
Hum. Genet. 111:368-375(2002) [PubMed] [Europe PMC] [Abstract]

"Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips."
Am. J. Hum. Genet. 72:1040-1046(2003) [PubMed] [Europe PMC] [Abstract]