Hyccin protein family

Hyccin
Hyccin
Identifiers
Symbol	HYCC1
Alt. symbols	FAM126A
NCBI gene	84668
HGNC	24587
OMIM	610531
RefSeq	NM_032581
UniProt	Q9BYI3
Other data
Locus	Chr. 7 p15.3
Structures
Search for
Structures	Swiss-model
Domains	InterPro

Available protein structures:
PDB	IPR018619 PF09790 (ECOD; PDBsum)
AlphaFold	IPR018619; PF09790;

Hyccin family
Hyccin family
Identifiers
Symbol	Hyccin
Pfam	PF09790
InterPro	IPR018619
PDB
Available protein structures:
PDB	IPR018619 PF09790 (ECOD; PDBsum)
AlphaFold	IPR018619; PF09790;

Hyccin 2

Identifiers

Symbol

HYCC2

Alt. symbols

FAM126B

Other data

Chr. 2 q33.1

Search for
Structures	Swiss-model
Domains	InterPro

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.

The two members found in humans are called Hyccin and Hyccin 2, and are encoded by the genes HYCC1 and HYCC2 respectively. 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.

References

↑ 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.
↑ 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.

External links

GeneReviews/NCBI/NIH/UW entry on Hypomyelination and Congenital Cataract

This article incorporates text from the public domain Pfam and InterPro: IPR018619

[pmid16951682-1] 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.

[pmid10910037-2] 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.