LRBA

1T77

LRBA
LRBA
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauLRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein
Dynodwyr allanolOMIM: 606453 HomoloGene: 36205 GeneCards: LRBA
Patrwm RNA pattern


Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

987

n/a

Ensembl

ENSG00000198589

n/a

UniProt

P50851

n/a

RefSeq (mRNA)

NM_001199282
NM_006726
NM_001364905
NM_001367550

n/a

RefSeq (protein)

NP_001186211
NP_006717
NP_001351834
NP_001354479

n/a

Lleoliad (UCSC)n/an/a
PubMed search[1]n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn LRBA yw LRBA a elwir hefyd yn LPS responsive beige-like anchor protein (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 4, band 4q31.3.[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn LRBA.

  • BGL
  • LBA
  • CDC4L
  • CVID8
  • LAB300

Llyfryddiaeth

  • "Recessively Inherited LRBAMutations Cause Autoimmunity Presenting as Neonatal Diabetes. ". Diabetes. 2017. PMID 28473463.
  • "Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis?". Clin Exp Rheumatol. 2017. PMID 28134088.
  • "LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. ". Clin Immunol. 2016. PMID 27057999.
  • "Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation. ". J Clin Endocrinol Metab. 2016. PMID 26745254.
  • "Spectrum of Phenotypes Associated with Mutations in LRBA.". J Clin Immunol. 2016. PMID 26707784.

Cyfeiriadau

  1. ↑ "Human PubMed Reference:".
  2. ↑ LRBA - Cronfa NCBI

Content Disclaimer

Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.

  1. The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
  2. There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
  3. It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
  4. Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
  5. Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.