Gene: SCARB2

Alternate names for this Gene: AMRF|CD36L2|EPM4|HLGP85|LGP85|LIMP-2|LIMPII|SR-BII

Gene Summary: The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4q21.1

Description of this Gene: scavenger receptor class B member 2

Type of Gene: protein-coding

Gene: FAM47E

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 4

Location in Chromosome : 4q21.1

Description of this Gene: family with sequence similarity 47 member E

Type of Gene: protein-coding

rs886041072 in SCARB2;FAM47E gene and Action Myoclonus-Renal Failure Syndrome PMID 22032306 2011 Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.

rs368906199 in SCARB2;FAM47E gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.