This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Function:
Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.
Subcellular Location:
Golgi apparatus membrane.
DISEASE:
Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018]: A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade.
Similarity:
Belongs to the GOSR2 family.
SWISS:
O14653
Gene ID:
9570
Database links:
Entrez Gene: 9570 Human
Entrez Gene: 419973 Chicken
Entrez Gene: 506198 Cow
Entrez Gene: 610436 Dog
Entrez Gene: 56494 Mouse
Entrez Gene: 64154 Rat
Omim: 604027 Human
SwissProt: O14653 Human
SwissProt: O35166 Mouse
SwissProt: O35165 Rat
Unigene: 463278 Human
Unigene: 195451 Mouse
Unigene: 13518 Rat
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