Gene: CENPQ

Alternate names for this Gene: C6orf139|CENP-Q

Gene Summary: CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.77771.1, SRR3476690.1009017.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000335783.4/ ENSP00000337289.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.3

Description of this Gene: centromere protein Q

Type of Gene: protein-coding

Gene: MMUT

Alternate names for this Gene: MCM|MUT

Gene Summary: This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria.

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.3

Description of this Gene: methylmalonyl-CoA mutase

Type of Gene: protein-coding