Gene superfamily: collagen proteins; (@COL1 COL2A1 COL3A1 @COL4 @COL5 @COL6 COL7A1 @COL8 @COL9 COL10A1 @COL11 COL12A1 COL12A1L COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1)
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FAG |
[1] 19 collagen protein species are described (I, II,.. XIX); for many
of them more than one type of closely related peptides are known
(e.g., in each of subfamilies COL1 and COL8, two peptides, A1 and A2;
in each of subfamilies COL5, COL6, COL9, and COL11, three peptides, A1,
A2, and A3), a total of over 20 amino acid sequences. Most of respective
genes are cloned and sequenced though not all mapped. Some of the
mapped genes are located within synteny groups, two or three at a
group, in Chrs 2q, 13q, and 21q.
[2] One of usbgroups of this family are the fibrillar associated collagens with interrupted triple helices (FACIT) and include collagen types IX (FAM:COL9/00.0), XII (GEM:06q1/COL12A1), XIV (GEM:08q23/COL14A1), XVI (GEM:01p34/COL16A1), and XIX (GEM:06q1/COL19A1). Members of this group have common structural features, including short stretches of collagenous domains interrupted by non-collagenous regions. These, in turn, form functional units that serve to produce adhesion to the fibrils, provide a rigid arm that projects from the fibril and provide a point of interaction with other matrix components." |
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BIB |
For a detailed review on collagen proteins and genes, see Timpl,Eengel, in: Structure and function of collagen types: biological and extracellular matrix, Mayne R, Burgeson RE, eds; Acad Press, NY, 1987; pp. 105-143." |
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PAT |
[1] Pathologies of collagen proteins are related with some types of
osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS).
However, in both cases a very heterogeneous group of pathologies is
united under the same name, their clinical genetic classification
being confused and incomplete. On the different OI types, see
GEM:17q2/COL1A1.
[2] As for EDS, the MIM Catalogue describes 18 its clinical variants. Of them, only nine are considered as independent markers, i.e. each being determined by its own gene locus. This group includes autosomal dominant types: ED-I (MIM:130000), ED-IV/A (MIM:130050), ED-VIII (MIM:130080), ED-XI (MIM:147900); autosomal recessive types: ED-IV/C (MIM:225350), ED-VI (MIM:225400), ED-VII/B (MIM:225410); and two X-linked types: ED-V (MIM:305200), ED-IX (MIM:304150). The dominant and recessive variants of ED-IV/A,C (Sack-Barabas collagenopathy, acrogeria) have been demonstrated to be accounted for by mutations of collagen III alpha-1 peptide (GEM:02q3/COL3A1). Two other dominant types, ED-VII-A1 and -A2 (MIM:130060) are related to mutations in two different collagen I loci (GEM:17q2/COL1A1; GEM:07q2/COL1A2). The recessive type ED-VII/B (MIM:225410) is possibly related to the gene determining the activity of collagen N-proteinase, which is not mapped yet." |
