background:
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].
Function:
The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS.
Subunit:
Interacts with GOLGA7.
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.
Tissue Specificity:
Highly expressed in kidney, skeletal muscle, brain, lung and liver. Absent in thymus, spleen and leukocytes.
DISEASE:
Defects in ZDHHC9 are the cause of mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799]. 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.
Similarity:
Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily.
Contains 1 DHHSLCtype zinc finger.
Database links:
Entrez Gene: 51114 Human
Entrez Gene: 208884 Mouse
Entrez Gene: 302808 Rat
Omim: 300646 Human
SwissProt: Q9Y397 Human
SwissProt: P59268 Mouse
Unigene: 193566 Human
Unigene: 207367 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|