Details for: CYP7B1
Associated with
Other Information
Genular Protein ID: 4027664953
Symbol: CP7B1_HUMAN
Name: Cytochrome P450 7B1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9802883
Title: Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7-alpha-hydroxylase gene causes severe neonatal liver disease.
PubMed ID: 9802883
DOI: 10.1172/jci2962
PubMed ID: 10588945
Title: Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1.
PubMed ID: 10588945
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: 24491228
Title: Human steroid and oxysterol 7alpha-hydroxylase CYP7B1: substrate specificity, azole binding and misfolding of clinically relevant mutants.
PubMed ID: 24491228
DOI: 10.1111/febs.12733
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 18252231
Title: Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
PubMed ID: 18252231
PubMed ID: 19439420
Title: CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
PubMed ID: 19439420
DOI: 10.1093/brain/awp073
PubMed ID: 21214876
Title: Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
PubMed ID: 21214876
PubMed ID: 24117163
Title: CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
PubMed ID: 24117163
DOI: 10.1111/ane.12188
PubMed ID: 27217339
Title: Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
PubMed ID: 27217339
DOI: 10.1093/brain/aww111
PubMed ID: 26714052
Title: Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
PubMed ID: 26714052
Sequence Information:
- Length: 506
- Mass: 58256
- Checksum: 07D3D4B801B6DBD9
- Sequence:
MAGEVSAATG RFSLERLGLP GLALAAALLL LALCLLVRRT RRPGEPPLIK GWLPYLGVVL NLRKDPLRFM KTLQKQHGDT FTVLLGGKYI TFILDPFQYQ LVIKNHKQLS FRVFSNKLLE KAFSISQLQK NHDMNDELHL CYQFLQGKSL DILLESMMQN LKQVFEPQLL KTTSWDTAEL YPFCSSIIFE ITFTTIYGKV IVCDNNKFIS ELRDDFLKFD DKFAYLVSNI PIELLGNVKS IREKIIKCFS SEKLAKMQGW SEVFQSRQDV LEKYYVHEDL EIGAHHLGFL WASVANTIPT MFWAMYYLLR HPEAMAAVRD EIDRLLQSTG QKKGSGFPIH LTREQLDSLI CLESSIFEAL RLSSYSTTIR FVEEDLTLSS ETGDYCVRKG DLVAIFPPVL HGDPEIFEAP EEFRYDRFIE DGKKKTTFFK RGKKLKCYLM PFGTGTSKCP GRFFALMEIK QLLVILLTYF DLEIIDDKPI GLNYSRLLFG IQYPDSDVLF RYKVKS
Genular Protein ID: 1568304146
Symbol: Q05C57_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
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
Sequence Information:
- Length: 489
- Mass: 56496
- Checksum: 18FC7142C34BDBDD
- Sequence:
MAGEVSAATG RFSLERLGLP GLALAAALLL LALCLLVRRT RRPGEPPLIK GWLPYLGVVL NLRKDPLRFM KTLQKQHGDT FTVLLGGKYI TFILDPFQYQ LVIKNHKQLS FRVFSNKLLE KAFSISQLQK NHDMNDELHL CYQFLQGKSL DILLESMMQN LKQVFEPQLL KTTSWDTAEL YPFCSSIIFE ITFTTIYGKV IVCDNNKFIS ELRDDFLKFD DKFAYLVSNI PIELLGNVKS IREKIIKCFS SEKLAKMQGW SEVFQSRQDV LEKYYVHEDL EIGAHHLGFL WASVANTIPT MFWAMYYLLR HPEAMAAVRD EIDRLLQSTG QKKGSGFPIH LTREQLDSLI CLESSIFEAL RLSSYSTTIR FVEEDLTLSS ETGDYCVRKG DLVAIFPPVL HGDPEIFEAP EEFRYDRFIE DGKKKTTFFK RGKKLKCYLM PFGTGTSKCP GRFFALMEIK QLLVKKKKKK KKKKKKKKKK KKKKKKKKK
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.