Major Facilitator Superfamily Domain Containing 8 (MFSD8) ELISA试剂盒

MFSD8 encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. 再加上,我们可以发Major Facilitator Superfamily Domain Containing 8 抗体 (7)和数多这个蛋白质的别的产品。

list all ELISA KIts 基因 基因ID UniProt
 MFSD8 MFSD8 256471 Q8NHS3
小鼠 MFSD8 MFSD8 72175 Q8BH31

适于 Major Facilitator Superfamily Domain Containing 8 相互作用对的更多 ELISA 试剂盒

Human Major Facilitator Superfamily Domain Containing 8 (MFSD8) interaction partners

  1. This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease.

  2. MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 (显示 MECP2 PLURAL_@12100@) mutation

  3. A mutation in MFSD8, c.472G>A (p.Gly158Ser), segregates with the disease phenotype in variant late infantile neuronal ceroid lipofuscinosis (显示 CLN6 ELISA试剂盒).

  4. In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement.

  5. This study showed that Gene disruption of Mfsd8 provides animal model for CLN7 disease.

  6. Expression and lysosomal targeting of CLN7 are reported.

  7. MFSD8 gene is involved in late-infantile-onset neuronal ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2.

  8. Results describe a novel mutation in the MFSD8 gene, responsible for neuronal ceroid lipofuscinoses, in a consanguineous Egyptian family

  9. Study contributes to a better molecular characterization of Italian NCL (显示 CLN5 ELISA试剂盒) cases, and will facilitate medical genetic counseling in such families.

  10. CLN7/MFSD8 defects are not restricted to the Turkish population, as initially anticipated, but are a relatively common cause of NCL (显示 CLN5 ELISA试剂盒) in different populations.

Mouse (Murine) Major Facilitator Superfamily Domain Containing 8 (MFSD8) interaction partners

  1. We have disrupted the Cln7/Mfsd8 gene in mice by targeted deletion of exon 2 generating a novel knockout (KO) mouse model for CLN7 disease, which recapitulates key features of human CLN7 disease pathology.

Major Facilitator Superfamily Domain Containing 8 (MFSD8) 抗原简介

Antigen Summary

This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL).

Gene names and symbols associated with MFSD8

  • major facilitator superfamily domain containing 8 (MFSD8) 抗体
  • major facilitator superfamily domain containing 8 (Mfsd8) 抗体
  • major facilitator superfamily domain containing 8 (mfsd8) 抗体
  • 2810423E13Rik 抗体
  • AI836898 抗体
  • AV142426 抗体
  • Cln7 抗体

Protein level used designations for MFSD8

ceroid-lipofuscinosis neuronal protein 7 , ceroid-lipofuscinosis, neuronal 7, late infantile , major facilitator superfamily domain-containing protein 8

GENE ID SPECIES
256471 Homo sapiens
72175 Mus musculus
444062 Xenopus laevis
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