NLR Family, Pyrin Domain-Containing 7

Alternative Names

  • NLRP7
  • NACHT Domain-, Leucine-Rich Repeat-, and PYD-Containing Protein 7
  • NALP7
  • Pyrin Domain-Containing APAF1-Like Protein 3
  • PYPAF3
  • NOD12
Back to search Result
OMIM Number

609661

NCBI Gene ID

199713

Uniprot ID

Q8WX94

Length

46,457 bases

No. of Exons

13

No. of isoforms

3

Protein Name

NACHT, LRR and PYD domains-containing protein 7

Molecular Mass

111807 Da

Amino Acid Count

980

Genomic Location

chr19:54,923,509-54,969,965

Gene Map Locus
19q13.42

Description

This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_139176.3:c.352+1G>ALebanonchr19:54940930PathogenicPathogenicHydatidiform Mole, Recurrent, 1NG_008056.1:g.11576G>A; NM_139176.3:c.352+1G>A1048955041584
© CAGS 2024. All rights reserved.