Details for: ANKH
Associated with
Other Information
Genular Protein ID: 1723836422
Symbol: ANKH_HUMAN
Name: Progressive ankylosis protein homolog
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10894769
Title: Role of the mouse ank gene in control of tissue calcification and arthritis.
PubMed ID: 10894769
PubMed ID: 10997877
Title: Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10997877
PubMed ID: 12975309
Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
PubMed ID: 12975309
DOI: 10.1101/gr.1293003
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15372022
Title: The DNA sequence and comparative analysis of human chromosome 5.
PubMed ID: 15372022
DOI: 10.1038/nature02919
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 32639996
Title: The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP.
PubMed ID: 32639996
PubMed ID: 35147247
Title: The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.
PubMed ID: 35147247
DOI: 10.1002/jbmr.4528
PubMed ID: 11326338
Title: Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.
PubMed ID: 11326338
DOI: 10.1086/320612
PubMed ID: 11326272
Title: Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
PubMed ID: 11326272
DOI: 10.1038/ng0501-37
PubMed ID: 12297987
PubMed ID: 12297989
Title: Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
PubMed ID: 12297989
DOI: 10.1086/343053
PubMed ID: 13130483
Title: Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease.
PubMed ID: 13130483
DOI: 10.1002/art.11133
PubMed ID: 20943778
Title: Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
PubMed ID: 20943778
DOI: 10.1210/jc.2010-1539
Sequence Information:
- Length: 492
- Mass: 54241
- Checksum: 44BFEE9089BDEC6B
- Sequence:
MVKFPALTHY WPLIRFLVPL GITNIAIDFG EQALNRGIAA VKEDAVEMLA SYGLAYSLMK FFTGPMSDFK NVGLVFVNSK RDRTKAVLCM VVAGAIAAVF HTLIAYSDLG YYIINKLHHV DESVGSKTRR AFLYLAAFPF MDAMAWTHAG ILLKHKYSFL VGCASISDVI AQVVFVAILL HSHLECREPL LIPILSLYMG ALVRCTTLCL GYYKNIHDII PDRSGPELGG DATIRKMLSF WWPLALILAT QRISRPIVNL FVSRDLGGSS AATEAVAILT ATYPVGHMPY GWLTEIRAVY PAFDKNNPSN KLVSTSNTVT AAHIKKFTFV CMALSLTLCF VMFWTPNVSE KILIDIIGVD FAFAELCVVP LRIFSFFPVP VTVRAHLTGW LMTLKKTFVL APSSVLRIIV LIASLVVLPY LGVHGATLGV GSLLAGFVGE STMVAIAACY VYRKQKKKME NESATEGEDS AMTDMPPTEE VTDIVEMREE NE
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.