MASS1 (for monogenic audiogenic seizure susceptibility 1) is one of the largest known GPCRs and is therefore referred to as Very Large G protein-coupled receptor 1 (VLGR1) (1,2). MASS1 is a large, calcium-binding GPCR expressed in the central nervous system and the eye (2,3). MASS1 has a large ectodomain containing multiple calcium exchanger beta repeats that resemble regulatory domains of sodium-calcium exchanger proteins (3). The human MASS1 gene maps to chromosome 5q14 and encodes a 1967 amino acid protein (1,2,4). The MASS1 gene has been linked to the autosomal recessive inheritance of general epilepsy in Frings mice that have seizures in response to loud noises (5).
Function:
Receptor that may have an important role in the development of the central nervous system.
Subcellular Location:
Cell membrane.
Tissue Specificity:
Expressed at low levels in adult tissues.
DISEASE:
Defects in GPR98 are the cause of Usher syndrome type 2C (USH2C) [MIM:605472]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Defects in GPR98 may be a cause of familial febrile convulsions type 4 (FEB4) [MIM:604352]; also known as familial febrile seizures 4. Febrile convulsions are seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.
Similarity:
Belongs to the G-protein coupled receptor 2 family.
LN-TM7 subfamily
.
Contains 35 Calx-beta domains.
Contains 6 EAR repeats.
Contains 1 GPS domain.
SWISS:
Q8WXG9
Gene ID:
16859
Database links:
Entrez Gene: 101837835 Hamster
Entrez Gene: 100073239 Horse
Entrez Gene: 16859 Human
Omim: 602851 Human
SwissProt: Q8WXG9 Human
Unigene: 591777 Human
|
|
