Gene: ENTR1

Alternate names for this Gene: NY-CO-3|SDCCAG3|SDDAG3

Gene Summary:

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: endosome associated trafficking regulator 1

Type of Gene: protein-coding

Gene: PMPCA

Alternate names for this Gene: Alpha-MPP|CLA1|CPD3|INPP5E|MAS2|P-55|SCAR2

Gene Summary: The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: peptidase, mitochondrial processing subunit alpha

Type of Gene: protein-coding

rs4298601 in ENTR1;PMPCA gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4298601 in ENTR1;PMPCA gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs869025292 in ENTR1;PMPCA gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 PMID 26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

PMID 25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.