Endothelin-Converting Enzyme-Like 1

Alternative Names

  • ECEL11
  • XCE
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OMIM Number

605896

NCBI Gene ID

9427

Uniprot ID

O95672

Length

8,008 bases

No. of Exons

18

No. of isoforms

2

Protein Name

Endothelin-converting enzyme-like 1

Molecular Mass

87791 Da

Amino Acid Count

775

Genomic Location

chr2:232,479,826-232,487,833

Gene Map Locus
2q37.1

Description

This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. 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_001290787.1:c.1679+7G>TMoroccoNC_000002.12:g.232482850C>APathogenicPathogenicArthrogryposis, Distal, Type 5DNG_034065.1:g.10010G>T; NM_001290787.1:c.1679+7G>T; NP_001277716.1:p.?587777131100652
NM_001290787.1:c.966+1G>ALebanonNC_000002.12:g.232484980C>TPathogenicArthrogryposis, Distal, Type 5DNG_034065.1:g.7880G>A; NM_001290787.1:c.966+1G>A199592757
NM_004826.4:c.1184+1G>TUnited Arab EmiratesNC_000002.12:g.232484471C>ALikely PathogenicArthrogryposis, Distal, Type 5DNG_034065.1:g.8389G>T; NM_004826.4:c.1184+1G>T; NP_004817.2:p.?
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