ECEL1 gene

endothelin converting enzyme like 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Mar 2014]

From UniProt:

May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.

From NCBI Gene:

  • Arthrogryposis, distal, type 5d

From UniProt:

Arthrogryposis, distal, 5D (DA5D): An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round-shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia. [MIM:615065]

Cytogenetic Location: 2q37.1, which is the long (q) arm of chromosome 2 at position 37.1

Molecular Location: base pairs 232,479,827 to 232,487,859 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q37.1, which is the long (q) arm of chromosome 2 at position 37.1
  • DA5D
  • DINE
  • ECEX
  • XCE