NP_115970.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
57,625 Da
NCBI Official Full Name
hyccin
NCBI Official Synonym Full Names
family with sequence similarity 126, member A
NCBI Protein Information
hyccin; down regulated by Ctnnb1, a; down-regulated by CTNNB1 protein A
UniProt Protein Name
Hyccin
UniProt Synonym Protein Names
Down-regulated by CTNNB1 protein A; Protein FAM126A
UniProt Synonym Gene Names
UniProt Entry Name
HYCCI_HUMAN
NCBI Summary for HCC
The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
UniProt Comments for HCC
FAM126A: May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination of the central and peripheral nervous system. Defects in FAM126A are the cause of leukodystrophy hypomyelinating type 5 (HLD5). This disorder is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. Belongs to the FAM126 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 7p15.3
Cellular Component: cytoplasm; plasma membrane
Molecular Function: signal transducer activity
Biological Process: signal transduction
Disease: Leukodystrophy, Hypomyelinating, 5
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Products associated with HCC elisa kit
Diseases associated with HCC elisa kit
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