CRELD1 codes for a cell adhesion molecule previously known as "cirrin". Locus AVSD2 (3p25). CRELD1 is the founding member of a family of matricellular proteins.
EGF domains
Epidermal growth factor-like repeats are a class of cysteine-rich domains that mediate interactions between proteins of diverse function. EGF domains are found in proteins that are either completely secreted or have transmembrane regions that tether the protein to the cell surface.
Pathology
missense mutations in (...)
Home > Keywords > Proteins > Malformation genes
Malformation genes
Articles
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CRELD1
29 September 2003 -
NF1
14 April 2004neurofibromin
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HOXA13
20 June 2005Pathology
triphalangeal thumb-brachyectrodactyly syndrome (#12382951#)
hand-foot-genital syndrome
polyalanine repeat expansion
HOXA genes in T-cell acute lymphoblastic leukemia (T-ALL)
HOXA13 rearrangement and surexpression in T-cell acute lymphoblastic leukemia (T-ALL) (#16804919#)
See also
polyalanine repeat expansions
References
Su X, Drabkin H, Clappier E, Morgado E, Busson M, Romana S, Soulier J, Berger R, Bernard OA, Lavau C. Transforming potential of the T-cell acute (...) -
GATA4
14 April 2004The GATA-binding proteins (GATAs) are a group of structurally related transcription factors that control gene expression and differentiation in a variety of cell types.
Members of the GATAs family of DNA-binding proteins recognize a consensus sequence known as the ’GATA’ motif, which is an important cis-element in the promoters of many genes. All GATA-binding proteins contain 1 or 2 zinc finger motifs of the distinctive form CXNCX(17)CNXC.
Pathology
germline mutations in atrial septal (...) -
FGFR1
18 January 2005Pathology
germ-line mutations of FGFR1
in Pfeiffer syndrome (MIM.101600)
in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
in osteoglophonic dysplasia
isolated trigonocephaly (MIM.190440)
isolated trigonocephaly (MIM.190440)
fusion proteins in cellular proliferations
BCR-FGFR1 by t(8;22)(p12;q11) in chronic myeloid leukemia (FGFR1 at 8p12 and BCR ar 22q11)
CEP110-FGFR1 by t(8;9)(p12;q33) in (...) -
SIX3
13 May 2005Pathology
germline mutations of SIX3 in holoprosencephaly 2 (HPE2) (MIM.157170) microphtalmia iris coloboma
See also
SIXs -
MNX1
8 December 2004HLXB9; HB9, HOXHB9, SCRA1; "homeo box HB9", "homeobox HB9"; motor neuron and pancreas homeobox 1
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AHI1
12 October 2004jouberin
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HOXD13
29 September 2003MIM.142989
HOXD13, the homeobox-containing gene located at the most 5’ end of the HOXD cluster, plays a critical role in limb development. It has been shown that mutations in human HOXD13 can give rise to limb malformations, with variable expressivity and a wide spectrum of clinical manifestations.
Polyalanine expansions in HOXD13 cause synpolydactyly, whereas amino acid substitutions in the homeodomain are associated with brachydactyly types D and E.
Pathology
fused in the HOXD13-NUP98 (...) -
MYCN
18 April 2005NMYC, N-MYC