GenTIGS

Solute carrier family 25 member 38 (SLC25A38) Associated conditions: 1. X-linked sideroblastic anemia 1

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001354798.2	NP_001341727.1	NC_000003.12	(39383369..39397350)	Reference GRCh38.p14 Primary Assembly	Q96DW6
2	REVIEWED	NM_017875.4	NP_060345.2	NC_000003.12	(39383369..39397350)	Reference GRCh38.p14 Primary Assembly	Q96DW6

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 125 reference articles

Variant Information Solute carrier family 25 member 38 (SLC25A38) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Solute carrier family 25 member 38 (SLC25A38)

ClinVar variants:Revealing mutagenic patterns

GO Term of Solute carrier family 25 member 38 (SLC25A38)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	is_active_in	mitochondrion	Component	21873635
2	Homo sapiens	ISS	located_in	mitochondrial inner membrane	Component	-
3	Homo sapiens	TAS	involved_in	heme biosynthetic process	Process	19412178
4	Homo sapiens	IBA	enables	glycine transmembrane transporter activity	Function	21873635
5	Homo sapiens	IMP	enables	glycine transmembrane transporter activity	Function	27476175
6	Homo sapiens	IMP	involved_in	erythrocyte differentiation	Process	19412178
7	Homo sapiens	IBA	involved_in	glycine import into mitochondrion	Process	21873635
8	Homo sapiens	IMP	involved_in	glycine import into mitochondrion	Process	27476175