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Gene: SAMM50 (SAMM50 sorting and assembly machinery component) Homo sapiens
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Symbol: SAMM50
Name: SAMM50 sorting and assembly machinery component
Description: Involved in cristae formation; mitochondrial respiratory chain complex assembly; and protein insertion into mitochondrial outer membrane. Localizes to the SAM complex and integral component of membrane. Implicated in non-alcoholic fatty liver disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CGI-51; FLJ35825; FLJ42905; FLJ99036; OMP85; SAM50; sorting and assembly machinery 50kDa; sorting and assembly machinery component 50 homolog; TOB55; transformation-related gene 3 protein; transformation-related protein 3; TRG-3; YNL026W
Orthologs:
Related Pseudogenes: SAMM50P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382243,955,442 - 43,996,529 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372244,351,261 - 44,392,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,682,634 - 42,723,745 (+)NCBINCBI36hg18NCBI36
Celera2228,262,860 - 28,304,013 (+)NCBI
Cytogenetic Map22q13.31NCBI
HuRef2227,305,853 - 27,346,273 (+)NCBIHuRef
CHM1_12244,309,992 - 44,351,172 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SAMM50
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1604035
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.