Biology Reference
In-Depth Information
TABLE 6.6.
Continued
Constituent
Type
polypeptides
Gene
Chromosome
Associated disorders
V
a1(V)
COL5A1
9q34.2-q34.3
Ehlers-Danlos syndrome, types I,
II
a2(V)
COL5A2
2q24.3-q31
Ehlers-Danlos syndrome, types I,
II
VI
a1(VI)
COL6A1
21q22.3
Bethlem-type myopathy
a2(VI)
COL6A2
21q22.3
Bethlem-type myopathy
a3(VI)
COL6A3
2q37
Bethlem-type myopathy
VII
a1(VII)
COL7A1
3p21.3
Epidermolysis bullosa dystrophica
VIII
a1(VIII)
COL8A1
3q12-q13.1
a2(VIII)
COL8A2
1p34.4-p32.3
IX
a1(IX)
COL9A1
6q13
a2(IX)
COL9A2
1p33-p32.2
Multiple epiphyseal dysplasia,
type II
a3(IX)
COL9A3
20q13.3
X
a1(X)
COL10A1
6q21-q22.3
Metaphyseal chondrodysplasia,
Schmid type
XI
a1(XI)
COL11A1
1p21
Marshall syndrome
Stickler syndrome, type III
a2(XI)
COL11A2
6p21.3
Otospondylomegaepiphyseal
dysplasia (OSMED)
Stickler syndrome, type II
DFNA13
a3(XI)
a
COL2A1
12q13.11-q13.2
See above for type II collagen
(
COL2A1
)
XII
a1(XII)
COL12A1
6q12-q13
XIII
a1(XIII)
COL13A1
10q22
XIV
a1(XIV)
COL14A1
8q23
XV
a1(XV)
COL15A1
9q21-q22
XVI
a1(XVI)
COL16A1
1p34
XVII
a1(XVII)
COL17A1
10q24.3
Epidermolysis bullosa,
generalized atrophic benign
type
XVIII
a1(XVIII)
COL18A1
21q22.3
XIX
a1(XIX)
COL19A1
6q12-q14
a
The a3(XI) polypeptide is a posttranslational variant of
COL2A1
.
Disorders associated with sensorineural hearing loss are italicized.
collagen polypeptide, a quantitatively major component of articular carti-
lage. In contrast, type XI collagen is a quantitatively minor fibrillar colla-
gen originally isolated from articular cartilage, but subsequently shown to
be present in other tissues (Bernard et al. 1988). It is formed by the asso-
ciation of its three constituent polypeptide subunits to form a triple
helix, which is secreted into the extracellular matrix where their N- and C-
terminal propeptides are cleaved (Prockop and Kivirikko 1995). The
mature type XI collagen heterotrimers self-assemble into collagen fibrils
whose diameter they are thought to regulate (Li et al. 1995).
