BLAST Gene WS
- Official Symbol
- ELNprovided by HGNC
- Official Full Name
- elastinprovided by HGNC
- Primary source
- HGNC:3327
- See related
- Ensembl:ENSG00000049540; HPRD:00556; MIM:130160; Vega:OTTHUMG00000150229
- 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
- WS; WBS; SVAS
- Summary
- This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
-
- Official Symbol
- PSEN2provided by HGNC
- Official Full Name
- presenilin 2 (Alzheimer disease 4)provided by HGNC
- Primary source
- HGNC:9509
- See related
- Ensembl:ENSG00000143801; HPRD:02860; MIM:600759; Vega:OTTHUMG00000037563
- 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
- AD4; PS2; AD3L; STM2; CMD1V
- Summary
- Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]
-
- Official Symbol
- FBN1provided by HGNC
- Official Full Name
- fibrillin 1provided by HGNC
- Primary source
- HGNC:3603
- See related
- Ensembl:ENSG00000166147; HPRD:00618; MIM:134797; Vega:OTTHUMG00000172218
- 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
- FBN; SGS; WMS; MASS; MFS1; OCTD; SSKS; WMS2; ACMICD; GPHYSD2
- Summary
- This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008]
-
- Official Symbol
- RB1provided by HGNC
- Official Full Name
- retinoblastoma 1provided by HGNC
- Primary source
- HGNC:9884
- Locus tag
- RP11-174I10.1
- See related
- Ensembl:ENSG00000139687; HPRD:01574; MIM:614041; Vega:OTTHUMG00000016900
- 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
- RB; pRb; OSRC; pp110; p105-Rb
- Summary
- The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
No comments:
Post a Comment