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    FAM126A family with sequence similarity 126, member A [ Homo sapiens (human) ]

    Gene ID: 84668, updated on 22-May-2013
    Official Symbol
    FAM126Aprovided by HGNC
    Official Full Name
    family with sequence similarity 126, member Aprovided by HGNC
    Primary source
    HGNC:24587
    See related
    Ensembl:ENSG00000122591; HPRD:16837; MIM:610531; Vega:OTTHUMG00000128435
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HCC; HLD5; HYCC1; DRCTNNB1A
    Summary
    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]
    Location :
    7p15.3
    Sequence :
    Chromosome: 7; NC_000007.13 (22980878..23053770, complement)
    See FAM126A in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 93 Neighboring gene ribosomal protein L12 pseudogene 10 Neighboring gene KLHL7 antisense RNA 1 (head to head) Neighboring gene kelch-like family member 7 Neighboring gene adenylate kinase 3 pseudogene 3

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Hypomyelination and congenital cataract: broadening the clinical phenotype. Biancheri R, et al. Arch Neurol, 2011 Sep. PMID 21911699.
    2. Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. Jiang Y, et al. Genet Epidemiol, 2011 Feb. PMID 21254220.
    3. Hypomyelination and Congenital Cataract Biancheri R, et al. , 1993. PMID 20301737.
    4. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348.
    5. A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. Ugur SA, et al. Eur J Hum Genet, 2008 Feb. PMID 17928815.

    See all (13) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Molecular analysis of 9 additional cases in this review depicts 3 novel mutations of FAM126A with clinical variability ranging from severe early-onset neurologic impairment to a milder phenotype
      Title: Hypomyelination and congenital cataract: broadening the clinical phenotype.
    2. Mutation of this gene results in defective myelination of both the central and peripheral nervous system.
      Title: Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
    3. A large intragenic deletion of DRCTNNB1A does not lead to congenital cataract in all of the patients in an afflicted family.
      Title: A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Hypomyelination and Congenital Cataract

    Summary from GeneReviews: Hypomyelination and Congenital Cataract Go to GeneReviews

    Disease Characteristics
    Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (brisk tendon reflexes and bilateral extensor plantar responses), and mild to moderate cognitive impairment. Dysarthria and truncal hypotonia are observed. Cerebellar signs (truncal titubation and intention tremor) and peripheral neuropathy (muscle weakness and wasting of the legs) are present in the majority of affected individuals. Seizures can occur. In a few cases cataracts may be absent.
    Diagnosis Testing
    HCC can be diagnosed with confidence in individuals with typical clinical findings, characteristic abnormalities on brain MRI, and identifiable mutations in FAM126A (also known as DRCTNNB1A or HCC). Sequence analysis of the entire coding region is available on a clinical basis.
    Genetic Counseling
    HCC is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Individuals with HCC do not reproduce. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk is available if the disease-causing mutations in the family are known.
    References

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    signal transducer activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
    		  
    signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    Preferred Names
    hyccin
    Names
    hyccin
    down regulated by Ctnnb1, a
    down-regulated by CTNNB1 protein A

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008392.1 RefSeqGene

      Range
      5001..77893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032581.3 → NP_115970.2  hyccin

      Status: REVIEWED

      Source sequence(s)
      AA811006, AL833296, BC018710, DB099987
      Consensus CDS
      CCDS5377.1
      UniProtKB/Swiss-Prot
      Q9BYI3
      Related
      ENSP00000403396, OTTHUMP00000158548, ENST00000432176, OTTHUMT00000250230
      Conserved Domains (1) summary
      pfam09790
      Location:20 – 330
      Blast Score: 1134
      Hyccin; Hyccin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p10 Primary Assembly

      Range
      22980878..23053770, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      22864258..22937122, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      23032723..23105592, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018918.1 Alternate CHM1_1.0

      Range
      22955066..23027963, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AACC02000007.1 (6641336..6714205) None
    genomic ABBA01056699.1 (33499..106363) None
    genomic AC005682.2 AAS01991.1
    genomic AC006039.3 AAS07519.1
    genomic AMYH01017110.1 (66730..139627) None
    genomic CH236948.1 EAL24262.1
    genomic CH471073.1 EAW93767.1
      EAW93768.1
    mRNA AA811006.1 None
    mRNA AB030241.1 BAB39849.1
    mRNA AK054887.1 BAB70823.1
    mRNA AK056319.1 BAB71148.1
    mRNA AK057686.1 None
    mRNA AK297399.1 BAG59839.1
    mRNA AL833296.1 None
    mRNA BC018710.1 AAH18710.1
    mRNA BX640757.1 CAE45864.1
    mRNA DB099987.1 None
    other-genetic DQ891698.2 ABM82624.1
    other-genetic DQ895341.2 ABM86267.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYI3.2 GenPept UniProtKB/Swiss-Prot:Q9BYI3

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
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        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
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        Full text in PubMedCentral identified from shared sequence links
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        Genome records having the gene annotated on corresponding genomic reference sequence.
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        PubChem Substances
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        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
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        Link to Protein RefSeqs
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        Link to Nucleotide RefSeq RNAs
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        Link to Nucleotide RefSeqGenes
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        Related SNP records
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        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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