Variant: rs1340611668 

    present in Gene: HHAT
    present in Chromosome: 1
    Position on Chromosome: 210348976
    Alleles of this Variant: A/G;T

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.