Table 1

Genes mapped to the interval between markers D14S1060 and D14S286

Gene/cDNA*†Gene functionLocus ID‡Accession No
*Genes are listed from centromere to telomere.
†A deletion in this patient lies between EGLN3 and SLC25A21.
‡NCBI LocusLink (
NPAS3 Basic helix-loop-helix PAS protein64067NM_022123
EGLN3 Implicated in the regulation of growth, differentiation and apoptosis, in muscle and nerve cells112399NM_022073
MGC24447 Function unknown171546NM_138288
BM036 Uuncharacterised bone marrow protein55837NM_018453
SNX6 Interacts with members of the transforming growth factor-beta family of receptor serine-threonine kinases58533NM_021249
CFL2 Actin binding protein which is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus1073NM_021914
BAZ1A May act as a chromatin mediated transcriptional regulator11177NM_013448
SRP54 Signal recognition particle subunit6729NM_003136
FLJ20644 Function unknown55012NM_017917
KIAA0391 Function unknown9692NM_014672
PSMA6 Proteasome subunit5687XM_046642
NFKBIA Inhibits NFkB activity by binding the rel domains of NF-kB components4792NM_020529
INSM2 Insulinoma associated protein84684NM_032594
DKFZp566D133 Function unknown26134XM_050005
KIAA0884 Function unknown23000XM_046660
MGC11296 Function unknown84312NM_032352
MBIP Interacts with MUK/DLK/ZPK and inhibits its activity to induce JNK/SAPK activation51562NM_016586
TITF1 Involved in differentiation of the striatum and the developing brain7080NM_003317
NKX2.8 Transcription factor26257NM_014360
PAX9 Involved in development of stratified squamous epithelia as well as various organs and skeletal elements5083NM_006194
SLC25A21 Mitochondrial oxodicarboxylate carrier89874NM_030631
MIPOL1 Function unknown145282XM_085077
HNF3A Transcriptional activator for liver specific transcripts3169NM_004496
LOC115669 Function unknown115669XM_056434
SSTR1 Somatostatin receptor6751NM_001049