Chordin-like 1

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CHRDL1
Identifiers
AliasesCHRDL1, chordin-like 1, CHL, MGC1, MGCN, NRLN1, VOPT, dA141H5.1, chordin like 1
External IDsMGI: 1933172 HomoloGene: 12834 GeneCards: CHRDL1
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for CHRDL1
Genomic location for CHRDL1
BandXq23Start110,673,856 bp[1]
End110,795,819 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001143981
NM_001143982
NM_001143983
NM_145234

NM_001114385
NM_031258
NM_001358592

RefSeq (protein)

NP_001107857
NP_112548
NP_001345521

Location (UCSC)Chr X: 110.67 – 110.8 MbChr X: 143.29 – 143.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chordin-like 1 is a protein that in humans is encoded by the CHRDL1 gene.[5]

Function[edit]

This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described.[5]

Clinical significance[edit]

Mutations in CHRDL1 are associated to Neuhäuser Syndrome , X-linked megalocornea and central corneal thickness .[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101938 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031283 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: Chordin-like 1". Retrieved 2014-08-06.
  6. ^ Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ (2014). "Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness". PLoS ONE. 9 (8): e104163. doi:10.1371/journal.pone.0104163. PMC 4122416. PMID 25093588.

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.