HHAT
HHAT (Hedgehog acyltransferase) is an enzyme that in humans is encoded by the HHAT gene. This enzyme is a member of the membrane-bound O-acyltransferase (MBOAT) family and has been shown to be involved in the lipid modification of Hedgehog (Hh) proteins, which are key regulators of animal development.
Function[edit | edit source]
The HHAT gene encodes a protein that is a member of the membrane-bound O-acyltransferase (MBOAT) family. The encoded protein is an enzyme that catalyzes the transfer of a palmitoyl group to the N-terminal cysteine of sonic hedgehog, a protein involved in a variety of developmental processes. The enzyme is necessary for sonic hedgehog protein palmitoylation and for its subsequent targeting to the cell membrane.
Clinical significance[edit | edit source]
Mutations in the HHAT gene are associated with a rare genetic disorder called Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS). This condition is characterized by the development of multiple basal cell carcinomas, odontogenic keratocysts, and skeletal abnormalities.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
