ATP/GTP-Binding Protein-Like 5

Alternative Names

  • AGBL5
  • Cytosolic Carboxypeptidase 5
  • CCP5

Associated Diseases

Retinitis Pigmentosa 75
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OMIM Number

615900

NCBI Gene ID

60509

Uniprot ID

Q8NDL9

Length

19,198 bases

No. of Exons

18

No. of isoforms

3

Protein Name

Cytosolic carboxypeptidase-like protein 5

Molecular Mass

97534 Da

Amino Acid Count

886

Genomic Location

chr2:27,051,422-27,070,619

Gene Map Locus
2p23.3

Description

This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021831.6:c.1255dupUnited Arab EmiratesNC_000002.12:g.27056028dupPathogenicLikely PathogenicRetinitis Pigmentosa 75NG_052914.1:g.9606dup; NM_021831.6:c.1255dup; NP_068603.4:p.Thr419AsnfsTer321668413357978985
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