Skip to main content

Table 6 AFF2 and MFSD8 genes information and aliases

From: Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Gene Ensembl/OMIM ID/Gene Ontology/ Aliases Location/Exon count Function
MFSD8
(NM_152778.2)
ENSG00000164073/
611,124/
GO:0007040
GO:0055085
Major facilitator superfamily domain-containing 8, CLN7 4q28.2/
13 Exons
Transmembrane ubiquitous protein consists of major facilitator superfamily and transporter domains
AFF2
(NM_002025.3)
ENSG00000155966/
300,806/
GO:0002151
AF4/FMR2 family member 2,
fragile XE mental retardation syndrome protein,
fragile X mental retardation 2 protein,
protein FMR-2,
FMR2P,
FMR2,
OX19, fragile X mental retardation 2, AF4/FMR2 family member 2
Xq28/
22 Exons
G-quadruplex RNA binding, RNA splicing
  1. OMIM Online Mendelian Inheritance in Man
  2. RNA Ribonucleic acid