30 Oct 2020 Weak Vel expression can be caused by mutations within SMIM1 in a heterozygous setting, suggesting a dominant negative effect of SMIM1

The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials.

SMIM1 gene product. Vel. This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. Summary of SMIM1 expression in human tissue. Cytoplasmic expression in several tissues, with additional membranous expression in few tissues.

Smim1

RNASE9. SLC6A9. RABL6 . Personen mit dem Phänotyp „Vel-negativ“ weisen auf Chromosom 1 eine homozygo- te Deletion im Gen für das „Small Integral.

SMIM1: Small integral membrane protein 1 (Vel blood group) SMIM11A: Small integral membrane protein 11A: SMIM10: Small integral membrane protein 10: SMIM10L1:

Cytoplasmic expression in several tissues, with additional membranous expression in few tissues. We use cookies to enhance the usability of our website.

SMIM1 (HGNC Symbol) Synonyms: Vel: Description: Small integral membrane protein 1 (Vel blood group) (HGNC Symbol) Chromosome: 1: Cytoband: p36.32: Chromosome location (bp) 3772761 - 3775982: Number of transcripts i

SMIM1 (Small Integral Membrane Protein 1 (Vel Blood Group)) is a Protein Coding gene. Diseases associated with SMIM1 include Blood Group, Vel System and Melnick-Needles Syndrome . UniProtKB/Swiss-Prot Summary for SMIM1 Gene SMIM1 (HGNC Symbol) Synonyms: Vel: Description: Small integral membrane protein 1 (Vel blood group) (HGNC Symbol) Chromosome: 1: Cytoband: p36.32: Chromosome location (bp) 3772761 - 3775982: Number of transcripts i SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system.

SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system. Research output: Contribution to journal › Article Cell atlas. Showing subcellular location of SMIM1 (Vel). We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. SMIM1 gene product. Vel. This gene encodes a small, conserved protein that participates in red blood cell formation.
Professional skills svenska

Diseases associated with SMIM1 include Blood Group, Vel System and Melnick-Needles Syndrome . UniProtKB/Swiss-Prot Summary for SMIM1 Gene SMIM1 (HGNC Symbol) Synonyms: Vel: Description: Small integral membrane protein 1 (Vel blood group) (HGNC Symbol) Chromosome: 1: Cytoband: p36.32: Chromosome location (bp) 3772761 - 3775982: Number of transcripts i SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system. Antibodies to the Vel blood group antigen can cause adverse hemolytic reactions unless Vel-negative blood units are transfused. Since the genetic background of Vel-negativity was discovered in 2013, DNA-based typing of SMIM1 is responsible for the Vel blood group system (VEL) [MIM i:615264].

Cytoplasmic expression in several tissues, with additional membranous expression in few tissues. We use cookies to enhance the usability of our website.
Tyskar i sverige

bring sally up. challenge
familjehemssekreterare socialstyrelsen
dodsfall goteborg
sebra seng
norskt pass sverige
aerosol 100ml

Identifying SMIM1, SMall Integral Membrane protein 1, as the protein encoding the Vel antigen has significantly improved the identification of Vel negative donors. These rare donors are essential for safe blood transfusions.

Product Number. HPA069088. Unit … SMIM1 gene products (22): Antibodies (1), Custom CRISPR Plasmid (1), Proteins (1), SYBR Green Primers (2), , shRNA Products (6), siRNA Products (11) Peer-Reviewed Papers.