Inner Mitochondrial Membrane Peptidase, Subunit 2

Alternative Names

  • IMMP2L
  • Inner Mitochondrial Membrane Peptidase, Subunit 2, S.cerevisiae, Homolog of
  • IMP2, S.cerevisiae, Homolog of
  • IMP2
  • IMP2-Like
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OMIM Number

605977

NCBI Gene ID

83943

Uniprot ID

Q96T52

Length

899,888 bases

No. of Exons

23

No. of isoforms

2

Protein Name

Mitochondrial inner membrane protease subunit 2

Molecular Mass

19718 Da

Amino Acid Count

175

Genomic Location

chr7:110,662,643-111,562,530

Gene Map Locus
7q31.1

Description

This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032549.4:c.239+187307_239+187310delUnited Arab EmiratesNC_000007.14:g.111299931_111299934delNG_030016.2:g.267587_267590del; NM_032549.4:c.239+187307_239+187310del; NP_115938.1:p.?1611048
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