Gene: LINC02245

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Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

Type of Gene:

Gene: LOC107984063

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Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

Type of Gene:

Gene: SLC1A4

Alternate names for this Gene: ASCT1|SATT|SPATCCM

Gene Summary: The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability.

Gene is located in Chromosome: 2

Location in Chromosome : 2p14

Description of this Gene: solute carrier family 1 member 4

Type of Gene: protein-coding

rs3770705 in LINC02245;LOC107984063;SLC1A4 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs201278558 in LINC02245;LOC107984063;SLC1A4 gene and SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY PMID 26041762 2015 Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

PMID 26138499 2015 SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

PMID 25930971 2015 A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.