Harmonizome 3.0

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

loss of heterozygosity, 19, chromosomal region 1

non-histone chromosomal protein HMG-17 pseudogene

loss of heterozygosity, 12, chromosomal region 1

Involved in lysosome localization and organelle transport along microtubule. Located in cytoplasmic side of lysosomal membrane; plasma membrane; and plus-end kinesin complex. Part of BORC complex. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Mar 2025]

loss of heterozygosity, 12, chromosomal region 2 (non-protein coding)

loss of heterozygosity, 1, chromosomal region 1

eukaryotic translation initiation factor 1A, X-chromosomal