Gene: NDUFS3

Alternate names for this Gene: CI-30|MC1DN8

Gene Summary: This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: NADH:ubiquinone oxidoreductase core subunit S3

Type of Gene: protein-coding

Gene: PTPMT1

Alternate names for this Gene: DUSP23|MOSP|PLIP|PNAS-129

Gene Summary:

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: protein tyrosine phosphatase mitochondrial 1

Type of Gene: protein-coding

Gene: CELF1

Alternate names for this Gene: BRUNOL2|CUG-BP|CUGBP|CUGBP1|EDEN-BP|NAB50|NAPOR|hNab50

Gene Summary: Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: CUGBP Elav-like family member 1

Type of Gene: protein-coding