SFXN4 sideroflexin 4

Gene ID: 119559, updated on 11-Apr-2024
Gene type: protein coding
Also known as: BCRM1; COXPD18; SLC56A4

Summary

This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MedGen: C3810001OMIM: 615578GeneReviews: Not available	See labs

Genomic context

Location:: 10q26.11

Sequence:: Chromosome: 10; NC_000010.11 (119140767..119165714, complement)

Total number of exons:: 16

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SFXN4 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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