Gene: IHH

Alternate names for this Gene: BDA1|HHG2

Gene Summary: This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: Indian hedgehog signaling molecule

Type of Gene: protein-coding

rs121917857 in IHH gene and Acrocapitofemoral Dysplasia PMID 12632327 2003 Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

rs121917853 in IHH gene and BRACHYDACTYLY, TYPE A1 (disorder) PMID 12384778 2002 A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

PMID 11455389 2001 Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

PMID 21537345 2011 In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN).

rs200216644 in IHH gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.