Hs02580252_cn

• Gene Symbol: PMPCB
• Assay Reference Genome Location: Chr.7:103297520 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 9512
• Gene Name: peptidase, mitochondrial processing beta subunit
• Gene Aliases: Beta-MPP, MPP11, MPPB, MPPP52, P-52
• Location: Chr.7:103297412-103329902 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMPCB	NM_004279.2	1	95	NP_004270.2
	XM_005250717.3	1	109	XP_005250774.1
	XM_006716181.3	1	108	XP_006716244.1
	AF054182.1	1	74	AAC39915.1
	AK000994.1	1	77
	AK057656.1	1	87
	AK098616.1	1	65
	AK289864.1	1	77
	AK297354.1	1	65
	BC014079.2			AAH14079.2
	BP311561.1	1	95

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv831084	Chr.7:103138461 - 103324523 on Build GRCh38	Gain	PMPCB DPY19L2P2 DNAJC2 RPL19P12 NAPEPLD

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

mitochondrial electron transport, ubiquinol to cytochrome c
aerobic respiration
protein processing

Function(s)

metalloendopeptidase activity
zinc ion binding