Gene: HHAT

Alternate names for this Gene: MART2|SKI1|Skn

Gene Summary: 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002].

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.2

Description of this Gene: hedgehog acyltransferase

Type of Gene: protein-coding

rs12758027 in HHAT gene and Ankylosing spondylitis PMID 23749187 2013 Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.

rs1340611668 in HHAT gene and Multiple congenital anomalies PMID 15075292 2004 Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates.

PMID 23055936 2012 Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.

PMID 18534984 2008 Hhat is a palmitoylacyltransferase with specificity for N-palmitoylation of Sonic Hedgehog.

PMID 24784881 2014 Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

rs7527939 in HHAT gene and Schizophrenia PMID 23142968 2013 We suggest rs7527939 to be the strongest indicator of susceptibility to schizophrenia in the Bulgarian population within the HHAT locus.

rs4537555 in HHAT gene and Smoking PMID 30068317 2018 Genome-wide association study of lung function and clinical implication in heavy smokers.

rs4537555 in HHAT gene and Smoking Behaviors PMID 30068317 2018 Genome-wide association study of lung function and clinical implication in heavy smokers.