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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