ZDHHC9 Antibody – Rabbit Polyclonal

This gene encodes an integral membrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein forms a complex with golgin subfamily A member 7 and functions as a palmitoyltransferase. This protein specifically palmitoylates HRAS and NRAS. Mutations in this gene are associated with X-linked mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, May 2010]

ZDHHC9: The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS. Defects in ZDHHC9 are the cause of mental retardation syndromic X-linked ZDHHC9-related (MRXSZ). A disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Some patients have marfanoid habitus as an additional feature. Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily.

Protein type: Membrane protein, multi-pass; EC 2.3.1.225; Transferase; Membrane protein, integral

Chromosomal Location of Human Ortholog: Xq26.1

Cellular Component: Golgi apparatus; endoplasmic reticulum membrane; endoplasmic reticulum; cytoplasm; intrinsic to Golgi membrane; integral to membrane

Molecular Function: zinc ion binding; Ras palmitoyltransferase activity; palmitoyltransferase activity; protein-cysteine S-palmitoleyltransferase activity

Biological Process: peptidyl-S-palmitoyl-L-cysteine biosynthetic process from peptidyl-cysteine; protein palmitoylation

Disease: Mental Retardation, X-linked, Syndromic, Raymond Type