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Hyccin protein family

From Wikipedia, the free encyclopedia
Hyccin
Identifiers
SymbolHyccin
PfamPF09790
InterProIPR018619
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary

In molecular biology, the hyccin protein family is a family of proteins which may have a role in the beta-catenin-Tcf/Lef signaling pathway, as well as in the process of myelination of the central and peripheral nervous system. One member of this family is hyccin, encoded by the FAM126A gene. Defects in Hyccin are the cause of Hypomyelination and Congenital Cataract (HCC), also called leukodystrophy hypomyelinating type 5 (HLD5). This disorder is characterised by congenital cataracts, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailing in the lower limbs.[1][2]

References

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  1. ^ Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C (October 2006). "Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract". Nat. Genet. 38 (10): 1111–3. doi:10.1038/ng1870. PMID 16951682. S2CID 9766786.
  2. ^ Kawasoe T, Furukawa Y, Daigo Y, Nishiwaki T, Ishiguro H, Fujita M, Satoh S, Miwa N, Nagasawa Y, Miyoshi Y, Ogawa M, Nakamura Y (July 2000). "Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin". Cancer Res. 60 (13): 3354–8. PMID 10910037.
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This article incorporates text from the public domain Pfam and InterPro: IPR018619